The Philadelphia chromosome or Philadelphia translocation is a specific abnormality of chromosome 22, which is unusually short, as an acquired abnormality that is most commonly associated with chronic myelogenous leukemia (CML). It is the result of a reciprocal translocation between chromosome 9 and chromosome 22, which is specifically designated t(9;22)(q34;q11). This gives rise to a fusion gene, BCR-ABL1, that juxtaposes the ABL1 gene on chromosome 9 (region q34) to a part of the BCR ("breakpoint cluster region") gene on chromosome 22 (region q11). The presence of this translocation is a highly sensitive test for CML, since 95% of people with CML have this abnormality (the remainder have either a cryptic translocation that is invisible on G-banded chromosome preparations, or a variant translocation involving another chromosome or chromosomes as well as the long arm of chromosomes 9 and 22). However, the presence of the Philadelphia (Ph) chromosome is not sufficiently specific to diagnose CML, since it is also found in acute lymphoblastic leukemia (ALL, 25–30% in adult and 2–10% in pediatric cases) and occasionally in acute myelogenous leukemia (AML).
Andrew Beckett (Tom Hanks) is a Senior Associate at the largest corporate law firm in Philadelphia. Beckett hides his homosexuality and his status as an AIDS patient from the other members of the law firm. On the day Beckett is assigned the firm's newest and most important case, a partner in the firm notices a lesion on Beckett's forehead. Although Beckett attributes the lesion to a racquetball injury, it is actually due to Kaposi's Sarcoma, a form of cancer marked by multiple tumors on the lymph nodes and skin.
Philadelphia (usually called "Philadelphiamagazine" and often incorrectly written as "Philadelphia Magazine" or referred to by the nickname "Phillymag") is a regional monthly magazine published in Philadelphia, Pennsylvania by the Lipson family of Philadelphia and its company, Metrocorp.
One of the oldest magazines of its kind, it was first published in 1908 by the Trades League of Philadelphia. S. Arthur Lipson bought the paper in 1946.
Philadelphia Chromosome, Translocations, Inversions, Deletions
This video discusses the formation of the Philadelphia Chromosome bringing about chronic myelogenous leukemia (CML) and the difference between translocations, inversions, and deletions. The medication imatinib (Gleevec) is also discussed.
published: 28 Jul 2017
bcr-abl Translocation Mechanism | Philadelphia Chromosome
The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). This chromosome is defective and unusually short because of reciprocal translocation, t(9;22)(q34;q11), of genetic material between chromosome 9 and chromosome 22, and contains a fusion gene called BCR-ABL1. This gene is the ABL1 gene of chromosome 9 juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22, coding for a hybrid protein: a tyrosine kinase signalling protein that is "always on", causing the cell to divide uncontrollably by interrupting the stability of the genome and impairing various signaling pathways governing the cell cycle.
The chromosomal defect in the Philadelphia ...
A short animation explaining reciprocial chromosomal translocation.
Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children's Fund for Health, Temple St 2014 (SF2014-02) with additional support from Shire Pharmaceuticals and Children's University Hospital, Temple Street.
In biology, a mutation is an alteration in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA.
A short animation explaining reciprocial chromosomal translocation.
Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children's Fund for Health, Temple St 2014 (SF2014-02) with additional support from Shire Pharmaceuticals and Children's University Hospital, Temple Street.
published: 23 Jan 2016
Chromosomal Translocation - Tales from the Genome
This video is part of an online course, Tales from the Genome. Check out the course here: https://www.udacity.com/course/bio110.
published: 23 Feb 2015
CML Due to chromosomal translocation.
Chronic myelogenous leukemia in humans arises due to chromosomal translocation between chromosome numbers 9 and 22.
After translocation the BCR-ABL gene come to chromosome number 22 and this new chromosome known as Philadelphia chromosome.
Due effect of this BCR-ABL gene CML arises.
published: 27 Oct 2022
Session 71: Genetic Testing Decoded - Understanding the Tools for Diagnosing Genetic Disorders
KIMS Cuddles O-N-E (Online Neonatal Education) - Session 71
Enroll in our weekly online academic classes and embark on an engaging educational journey.
Topic: Genetic Testing Decoded Understanding the Tools for Diagnosing Genetic Disorders
Date & Time: 27th September 2024 & 2pm to 3pm
Speaker:
Ms. Shreya Bari,
Clinical Genetics Liaison,
Centogene.
For more details, contact:
Dr. C. Aparna: 7708427060 / 9100655997
Dr. Rohini: 7396233301
For more updates, subscribe to our channel https://www.youtube.com/c/KIMSCuddles
Follow us on Social Media for more interesting information
Facebook: https://www.facebook.com/kimscuddles/
Instagram: https://www.instagram.com/kimscuddles/
Website: https://www.kimscuddles.com/
-----------------------------------------------------------...
published: 27 Sep 2024
Philadelphia chromosome (Ph) - Medical Definition and Pronunciation
Goodies: https://geni.us/medical-dictionary
Title: Philadelphia chromosome (Ph)
Philadelphia chromosome (Ph): The chromosome abnormality that causes chronic myeloid leukemia (CML). Abbreviated as the Ph chromosome. The Ph chromosome is an abnormally short chromosome 22 that is one of the two chromosomes involved in a translocation (an exchange of material) with chromosome 9. This translocation takes place in a single bone marrow cell and, through the process of clonal expansion (the production of many cells from this one mutant cell), it gives rise to the leukemia. The discovery in Philadelphia in 1960 of the Ph chromosome was a landmark. It was the first consistent chromosome abnormality found in any kind of malignancy. The discovery led to the identification in CML cells of the BCR-ABL...
This video discusses the formation of the Philadelphia Chromosome bringing about chronic myelogenous leukemia (CML) and the difference between translocations, ...
This video discusses the formation of the Philadelphia Chromosome bringing about chronic myelogenous leukemia (CML) and the difference between translocations, inversions, and deletions. The medication imatinib (Gleevec) is also discussed.
This video discusses the formation of the Philadelphia Chromosome bringing about chronic myelogenous leukemia (CML) and the difference between translocations, inversions, and deletions. The medication imatinib (Gleevec) is also discussed.
The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic...
The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). This chromosome is defective and unusually short because of reciprocal translocation, t(9;22)(q34;q11), of genetic material between chromosome 9 and chromosome 22, and contains a fusion gene called BCR-ABL1. This gene is the ABL1 gene of chromosome 9 juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22, coding for a hybrid protein: a tyrosine kinase signalling protein that is "always on", causing the cell to divide uncontrollably by interrupting the stability of the genome and impairing various signaling pathways governing the cell cycle.
The chromosomal defect in the Philadelphia chromosome is a reciprocal translocation, in which parts of two chromosomes, 9 and 22, swap places. The result is that a fusion gene is created by juxtaposing the ABL1 gene on chromosome 9 (region q34) to a part of the BCR (breakpoint cluster region) gene on chromosome 22 (region q11). This is a reciprocal translocation, creating an elongated chromosome 9 (termed a derivative chromosome, or der 9), and a truncated chromosome 22 (the Philadelphia chromosome, 22q-).In agreement with the International System for Human Cytogenetic Nomenclature (ISCN), this chromosomal translocation is designated as t(9;22)(q34;q11). The symbol ABL1 is derived from Abelson, the name of a leukemia virus which carries a similar protein. The symbol BCR is derived from breakpoint cluster region, a gene which encodes a protein that acts as a guanine nucleotide exchange factor for Rho GTPase proteins .
Translocation results in an oncogenic BCR-ABL1 gene fusion that can be found on the shorter derivative chromosome 22. This gene encodes for a BCR-ABL1 fusion protein. Depending on the precise location of fusion, the molecular weight of this protein can range from 185 to 210 kDa. Consequently, the hybrid BCR-ABL1 fusion protein is referred to as p210 or p185.
The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). This chromosome is defective and unusually short because of reciprocal translocation, t(9;22)(q34;q11), of genetic material between chromosome 9 and chromosome 22, and contains a fusion gene called BCR-ABL1. This gene is the ABL1 gene of chromosome 9 juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22, coding for a hybrid protein: a tyrosine kinase signalling protein that is "always on", causing the cell to divide uncontrollably by interrupting the stability of the genome and impairing various signaling pathways governing the cell cycle.
The chromosomal defect in the Philadelphia chromosome is a reciprocal translocation, in which parts of two chromosomes, 9 and 22, swap places. The result is that a fusion gene is created by juxtaposing the ABL1 gene on chromosome 9 (region q34) to a part of the BCR (breakpoint cluster region) gene on chromosome 22 (region q11). This is a reciprocal translocation, creating an elongated chromosome 9 (termed a derivative chromosome, or der 9), and a truncated chromosome 22 (the Philadelphia chromosome, 22q-).In agreement with the International System for Human Cytogenetic Nomenclature (ISCN), this chromosomal translocation is designated as t(9;22)(q34;q11). The symbol ABL1 is derived from Abelson, the name of a leukemia virus which carries a similar protein. The symbol BCR is derived from breakpoint cluster region, a gene which encodes a protein that acts as a guanine nucleotide exchange factor for Rho GTPase proteins .
Translocation results in an oncogenic BCR-ABL1 gene fusion that can be found on the shorter derivative chromosome 22. This gene encodes for a BCR-ABL1 fusion protein. Depending on the precise location of fusion, the molecular weight of this protein can range from 185 to 210 kDa. Consequently, the hybrid BCR-ABL1 fusion protein is referred to as p210 or p185.
A short animation explaining reciprocial chromosomal translocation.
Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children's Fun...
A short animation explaining reciprocial chromosomal translocation.
Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children's Fund for Health, Temple St 2014 (SF2014-02) with additional support from Shire Pharmaceuticals and Children's University Hospital, Temple Street.
A short animation explaining reciprocial chromosomal translocation.
Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children's Fund for Health, Temple St 2014 (SF2014-02) with additional support from Shire Pharmaceuticals and Children's University Hospital, Temple Street.
In biology, a mutation is an alteration in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DN...
In biology, a mutation is an alteration in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA.
In biology, a mutation is an alteration in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA.
A short animation explaining reciprocial chromosomal translocation.
Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children's Fun...
A short animation explaining reciprocial chromosomal translocation.
Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children's Fund for Health, Temple St 2014 (SF2014-02) with additional support from Shire Pharmaceuticals and Children's University Hospital, Temple Street.
A short animation explaining reciprocial chromosomal translocation.
Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children's Fund for Health, Temple St 2014 (SF2014-02) with additional support from Shire Pharmaceuticals and Children's University Hospital, Temple Street.
Chronic myelogenous leukemia in humans arises due to chromosomal translocation between chromosome numbers 9 and 22.
After translocation the BCR-ABL gene come to...
Chronic myelogenous leukemia in humans arises due to chromosomal translocation between chromosome numbers 9 and 22.
After translocation the BCR-ABL gene come to chromosome number 22 and this new chromosome known as Philadelphia chromosome.
Due effect of this BCR-ABL gene CML arises.
Chronic myelogenous leukemia in humans arises due to chromosomal translocation between chromosome numbers 9 and 22.
After translocation the BCR-ABL gene come to chromosome number 22 and this new chromosome known as Philadelphia chromosome.
Due effect of this BCR-ABL gene CML arises.
KIMS Cuddles O-N-E (Online Neonatal Education) - Session 71
Enroll in our weekly online academic classes and embark on an engaging educational journey.
Topi...
KIMS Cuddles O-N-E (Online Neonatal Education) - Session 71
Enroll in our weekly online academic classes and embark on an engaging educational journey.
Topic: Genetic Testing Decoded Understanding the Tools for Diagnosing Genetic Disorders
Date & Time: 27th September 2024 & 2pm to 3pm
Speaker:
Ms. Shreya Bari,
Clinical Genetics Liaison,
Centogene.
For more details, contact:
Dr. C. Aparna: 7708427060 / 9100655997
Dr. Rohini: 7396233301
For more updates, subscribe to our channel https://www.youtube.com/c/KIMSCuddles
Follow us on Social Media for more interesting information
Facebook: https://www.facebook.com/kimscuddles/
Instagram: https://www.instagram.com/kimscuddles/
Website: https://www.kimscuddles.com/
--------------------------------------------------------------------------------------------
#kimscuddles #CuddlesONE #OnlineNeonatalEducation #neonatalogy #humanmilkbank #breastfeeding #breastfeedingweek #maternityhospital #Centogene
KIMS Cuddles O-N-E (Online Neonatal Education) - Session 71
Enroll in our weekly online academic classes and embark on an engaging educational journey.
Topic: Genetic Testing Decoded Understanding the Tools for Diagnosing Genetic Disorders
Date & Time: 27th September 2024 & 2pm to 3pm
Speaker:
Ms. Shreya Bari,
Clinical Genetics Liaison,
Centogene.
For more details, contact:
Dr. C. Aparna: 7708427060 / 9100655997
Dr. Rohini: 7396233301
For more updates, subscribe to our channel https://www.youtube.com/c/KIMSCuddles
Follow us on Social Media for more interesting information
Facebook: https://www.facebook.com/kimscuddles/
Instagram: https://www.instagram.com/kimscuddles/
Website: https://www.kimscuddles.com/
--------------------------------------------------------------------------------------------
#kimscuddles #CuddlesONE #OnlineNeonatalEducation #neonatalogy #humanmilkbank #breastfeeding #breastfeedingweek #maternityhospital #Centogene
Goodies: https://geni.us/medical-dictionary
Title: Philadelphia chromosome (Ph)
Philadelphia chromosome (Ph): The chromosome abnormality that causes chronic m...
Goodies: https://geni.us/medical-dictionary
Title: Philadelphia chromosome (Ph)
Philadelphia chromosome (Ph): The chromosome abnormality that causes chronic myeloid leukemia (CML). Abbreviated as the Ph chromosome. The Ph chromosome is an abnormally short chromosome 22 that is one of the two chromosomes involved in a translocation (an exchange of material) with chromosome 9. This translocation takes place in a single bone marrow cell and, through the process of clonal expansion (the production of many cells from this one mutant cell), it gives rise to the leukemia. The discovery in Philadelphia in 1960 of the Ph chromosome was a landmark. It was the first consistent chromosome abnormality found in any kind of malignancy. The discovery led to the identification in CML cells of the BCR-ABL fusion gene and its corresponding protein. ABL and BCR are normal genes on chromosomes 9 and 22, respectively. The ABL gene encodes a tyrosine kinase enzyme whose activity is tightly regulated (controlled). In the formation of the Ph translocation, two fusion genes are generated: BCR-ABL on the Ph chromosome and ABL-BCR on the chromosome 9 participating in the translocation. The BCR-ABL gene encodes a protein with deregulated (uncontrolled) tyrosine kinase activity. The presence of this protein in the CML cells is strong evidence of its pathogenetic (disease-causing) role. The efficacy in CML of a drug that inhibits the BCR-ABL tyrosine kinase has provided the final proof that the BCR-ABL oncoprotein is the unique cause of CML. The Ph chromosome is also found in a form of acute lymphoblastic leukemia (ALL). It seems highly probable that this form of ALL is due to the same chromosomal and molecular mechanisms as CML. Philadelphia chromosome is the hallmark of chronic myeloid leukemia (CML). The Philadelphia (Ph) chromosome is an abbreviated chromosome 22 that was shortchanged in a reciprocal exchange of material with chromosome 9. This translocation occurs in a cell in the bone-marrow, and causes CML It is also found in a form of acute lymphoblastic leukemia (ALL). On a molecular level the Philadelphia chromosome translocation results in the production of a fusion protein. A large portion of a proto-oncogene, called ABL, on chromosome 9 is translocated to the BCR gene on chromosome 22. The two gene segments are fused and ultimately produce a chimeric protein that is larger than the normal ABL protein. The malignant state is a consequence of this process. Understanding this process led to the development of the drug imatinib mesylate (Gleevec) the first in a new class of genetically targeted agents, a major advance in cancer treatment..
How to pronounce Philadelphia chromosome (Ph)
definition of Philadelphia chromosome (Ph)
audio dictionary
How to say Philadelphia chromosome (Ph)
What is the meaning of Philadelphia chromosome (Ph)
Pronounce Philadelphia chromosome (Ph)
Medical dictionary
Medical definition of Philadelphia chromosome (Ph)
Goodies: https://geni.us/medical-dictionary
Title: Philadelphia chromosome (Ph)
Philadelphia chromosome (Ph): The chromosome abnormality that causes chronic myeloid leukemia (CML). Abbreviated as the Ph chromosome. The Ph chromosome is an abnormally short chromosome 22 that is one of the two chromosomes involved in a translocation (an exchange of material) with chromosome 9. This translocation takes place in a single bone marrow cell and, through the process of clonal expansion (the production of many cells from this one mutant cell), it gives rise to the leukemia. The discovery in Philadelphia in 1960 of the Ph chromosome was a landmark. It was the first consistent chromosome abnormality found in any kind of malignancy. The discovery led to the identification in CML cells of the BCR-ABL fusion gene and its corresponding protein. ABL and BCR are normal genes on chromosomes 9 and 22, respectively. The ABL gene encodes a tyrosine kinase enzyme whose activity is tightly regulated (controlled). In the formation of the Ph translocation, two fusion genes are generated: BCR-ABL on the Ph chromosome and ABL-BCR on the chromosome 9 participating in the translocation. The BCR-ABL gene encodes a protein with deregulated (uncontrolled) tyrosine kinase activity. The presence of this protein in the CML cells is strong evidence of its pathogenetic (disease-causing) role. The efficacy in CML of a drug that inhibits the BCR-ABL tyrosine kinase has provided the final proof that the BCR-ABL oncoprotein is the unique cause of CML. The Ph chromosome is also found in a form of acute lymphoblastic leukemia (ALL). It seems highly probable that this form of ALL is due to the same chromosomal and molecular mechanisms as CML. Philadelphia chromosome is the hallmark of chronic myeloid leukemia (CML). The Philadelphia (Ph) chromosome is an abbreviated chromosome 22 that was shortchanged in a reciprocal exchange of material with chromosome 9. This translocation occurs in a cell in the bone-marrow, and causes CML It is also found in a form of acute lymphoblastic leukemia (ALL). On a molecular level the Philadelphia chromosome translocation results in the production of a fusion protein. A large portion of a proto-oncogene, called ABL, on chromosome 9 is translocated to the BCR gene on chromosome 22. The two gene segments are fused and ultimately produce a chimeric protein that is larger than the normal ABL protein. The malignant state is a consequence of this process. Understanding this process led to the development of the drug imatinib mesylate (Gleevec) the first in a new class of genetically targeted agents, a major advance in cancer treatment..
How to pronounce Philadelphia chromosome (Ph)
definition of Philadelphia chromosome (Ph)
audio dictionary
How to say Philadelphia chromosome (Ph)
What is the meaning of Philadelphia chromosome (Ph)
Pronounce Philadelphia chromosome (Ph)
Medical dictionary
Medical definition of Philadelphia chromosome (Ph)
This video discusses the formation of the Philadelphia Chromosome bringing about chronic myelogenous leukemia (CML) and the difference between translocations, inversions, and deletions. The medication imatinib (Gleevec) is also discussed.
The Philadelphia chromosome or Philadelphia translocation (Ph) is a specific genetic abnormality in chromosome 22 of leukemia cancer cells (particularly chronic myeloid leukemia (CML) cells). This chromosome is defective and unusually short because of reciprocal translocation, t(9;22)(q34;q11), of genetic material between chromosome 9 and chromosome 22, and contains a fusion gene called BCR-ABL1. This gene is the ABL1 gene of chromosome 9 juxtaposed onto the breakpoint cluster region BCR gene of chromosome 22, coding for a hybrid protein: a tyrosine kinase signalling protein that is "always on", causing the cell to divide uncontrollably by interrupting the stability of the genome and impairing various signaling pathways governing the cell cycle.
The chromosomal defect in the Philadelphia chromosome is a reciprocal translocation, in which parts of two chromosomes, 9 and 22, swap places. The result is that a fusion gene is created by juxtaposing the ABL1 gene on chromosome 9 (region q34) to a part of the BCR (breakpoint cluster region) gene on chromosome 22 (region q11). This is a reciprocal translocation, creating an elongated chromosome 9 (termed a derivative chromosome, or der 9), and a truncated chromosome 22 (the Philadelphia chromosome, 22q-).In agreement with the International System for Human Cytogenetic Nomenclature (ISCN), this chromosomal translocation is designated as t(9;22)(q34;q11). The symbol ABL1 is derived from Abelson, the name of a leukemia virus which carries a similar protein. The symbol BCR is derived from breakpoint cluster region, a gene which encodes a protein that acts as a guanine nucleotide exchange factor for Rho GTPase proteins .
Translocation results in an oncogenic BCR-ABL1 gene fusion that can be found on the shorter derivative chromosome 22. This gene encodes for a BCR-ABL1 fusion protein. Depending on the precise location of fusion, the molecular weight of this protein can range from 185 to 210 kDa. Consequently, the hybrid BCR-ABL1 fusion protein is referred to as p210 or p185.
A short animation explaining reciprocial chromosomal translocation.
Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children's Fund for Health, Temple St 2014 (SF2014-02) with additional support from Shire Pharmaceuticals and Children's University Hospital, Temple Street.
In biology, a mutation is an alteration in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA.
A short animation explaining reciprocial chromosomal translocation.
Co-funded by a 2014 UCD Community Engagement Seed Funding Grant (SF1028) and Children's Fund for Health, Temple St 2014 (SF2014-02) with additional support from Shire Pharmaceuticals and Children's University Hospital, Temple Street.
Chronic myelogenous leukemia in humans arises due to chromosomal translocation between chromosome numbers 9 and 22.
After translocation the BCR-ABL gene come to chromosome number 22 and this new chromosome known as Philadelphia chromosome.
Due effect of this BCR-ABL gene CML arises.
KIMS Cuddles O-N-E (Online Neonatal Education) - Session 71
Enroll in our weekly online academic classes and embark on an engaging educational journey.
Topic: Genetic Testing Decoded Understanding the Tools for Diagnosing Genetic Disorders
Date & Time: 27th September 2024 & 2pm to 3pm
Speaker:
Ms. Shreya Bari,
Clinical Genetics Liaison,
Centogene.
For more details, contact:
Dr. C. Aparna: 7708427060 / 9100655997
Dr. Rohini: 7396233301
For more updates, subscribe to our channel https://www.youtube.com/c/KIMSCuddles
Follow us on Social Media for more interesting information
Facebook: https://www.facebook.com/kimscuddles/
Instagram: https://www.instagram.com/kimscuddles/
Website: https://www.kimscuddles.com/
--------------------------------------------------------------------------------------------
#kimscuddles #CuddlesONE #OnlineNeonatalEducation #neonatalogy #humanmilkbank #breastfeeding #breastfeedingweek #maternityhospital #Centogene
Goodies: https://geni.us/medical-dictionary
Title: Philadelphia chromosome (Ph)
Philadelphia chromosome (Ph): The chromosome abnormality that causes chronic myeloid leukemia (CML). Abbreviated as the Ph chromosome. The Ph chromosome is an abnormally short chromosome 22 that is one of the two chromosomes involved in a translocation (an exchange of material) with chromosome 9. This translocation takes place in a single bone marrow cell and, through the process of clonal expansion (the production of many cells from this one mutant cell), it gives rise to the leukemia. The discovery in Philadelphia in 1960 of the Ph chromosome was a landmark. It was the first consistent chromosome abnormality found in any kind of malignancy. The discovery led to the identification in CML cells of the BCR-ABL fusion gene and its corresponding protein. ABL and BCR are normal genes on chromosomes 9 and 22, respectively. The ABL gene encodes a tyrosine kinase enzyme whose activity is tightly regulated (controlled). In the formation of the Ph translocation, two fusion genes are generated: BCR-ABL on the Ph chromosome and ABL-BCR on the chromosome 9 participating in the translocation. The BCR-ABL gene encodes a protein with deregulated (uncontrolled) tyrosine kinase activity. The presence of this protein in the CML cells is strong evidence of its pathogenetic (disease-causing) role. The efficacy in CML of a drug that inhibits the BCR-ABL tyrosine kinase has provided the final proof that the BCR-ABL oncoprotein is the unique cause of CML. The Ph chromosome is also found in a form of acute lymphoblastic leukemia (ALL). It seems highly probable that this form of ALL is due to the same chromosomal and molecular mechanisms as CML. Philadelphia chromosome is the hallmark of chronic myeloid leukemia (CML). The Philadelphia (Ph) chromosome is an abbreviated chromosome 22 that was shortchanged in a reciprocal exchange of material with chromosome 9. This translocation occurs in a cell in the bone-marrow, and causes CML It is also found in a form of acute lymphoblastic leukemia (ALL). On a molecular level the Philadelphia chromosome translocation results in the production of a fusion protein. A large portion of a proto-oncogene, called ABL, on chromosome 9 is translocated to the BCR gene on chromosome 22. The two gene segments are fused and ultimately produce a chimeric protein that is larger than the normal ABL protein. The malignant state is a consequence of this process. Understanding this process led to the development of the drug imatinib mesylate (Gleevec) the first in a new class of genetically targeted agents, a major advance in cancer treatment..
How to pronounce Philadelphia chromosome (Ph)
definition of Philadelphia chromosome (Ph)
audio dictionary
How to say Philadelphia chromosome (Ph)
What is the meaning of Philadelphia chromosome (Ph)
Pronounce Philadelphia chromosome (Ph)
Medical dictionary
Medical definition of Philadelphia chromosome (Ph)
The Philadelphia chromosome or Philadelphia translocation is a specific abnormality of chromosome 22, which is unusually short, as an acquired abnormality that is most commonly associated with chronic myelogenous leukemia (CML). It is the result of a reciprocal translocation between chromosome 9 and chromosome 22, which is specifically designated t(9;22)(q34;q11). This gives rise to a fusion gene, BCR-ABL1, that juxtaposes the ABL1 gene on chromosome 9 (region q34) to a part of the BCR ("breakpoint cluster region") gene on chromosome 22 (region q11). The presence of this translocation is a highly sensitive test for CML, since 95% of people with CML have this abnormality (the remainder have either a cryptic translocation that is invisible on G-banded chromosome preparations, or a variant translocation involving another chromosome or chromosomes as well as the long arm of chromosomes 9 and 22). However, the presence of the Philadelphia (Ph) chromosome is not sufficiently specific to diagnose CML, since it is also found in acute lymphoblastic leukemia (ALL, 25–30% in adult and 2–10% in pediatric cases) and occasionally in acute myelogenous leukemia (AML).