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Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: Inv(2)(p15;q24.2)
Year:
2011
Authors :
Granot, David
;
.
Volume :
155
Co-Authors:
Granot-Hershkovitz, E., Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
Raas-Rothschild, A., Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
Frumkin, A., Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
Granot, D., Institute of Plant Sciences, Agricultural Research Organization, The Volcani Center, Beth-Dagan, Israel
Silverstein, S., Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
Abeliovich, D., Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
Facilitators :
From page:
1825
To page:
1832
(
Total pages:
8
)
Abstract:
Cytogenetic analysis of DNA from a girl with severe psychomotor retardation revealed a de novo pericentric inversion of chromosome 2: 46,XX,inv(2)(p15q24.2). In order to elucidate the possible role of the inversion in the girl's abnormal phenotype, we analyzed the inversion breakpoints. FISH analysis revealed BAC clones spanning the breakpoints at 2p and 2q of the inversion. Southern blot hybridization with DNA probes from the BAC regions was used to refine the localization of the breakpoints, followed by inverse-PCR which enabled us to sequence the inversion breakpoints. We found a complex chromosomal rearrangement, including five breakpoints, four at 2q and one at 2p joined with minor insertions/deletions of a few bases. The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders. In 2q, the breakpoints disrupted two genes, TANC1 and RBMS1; the phenotypic effect of these genes is not currently known. © 2011 Wiley-Liss, Inc.
Note:
Related Files :
chromosome mapping
DNA
Female
Gene
phenotype
school child
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More details
DOI :
10.1002/ajmg.a.33952
Article number:
Affiliations:
Database:
Scopus
Publication Type:
article
;
.
Language:
English
Editors' remarks:
ID:
19553
Last updated date:
02/03/2022 17:27
Creation date:
16/04/2018 23:30
You may also be interested in
Scientific Publication
Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: Inv(2)(p15;q24.2)
155
Granot-Hershkovitz, E., Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
Raas-Rothschild, A., Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
Frumkin, A., Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
Granot, D., Institute of Plant Sciences, Agricultural Research Organization, The Volcani Center, Beth-Dagan, Israel
Silverstein, S., Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
Abeliovich, D., Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: Inv(2)(p15;q24.2)
Cytogenetic analysis of DNA from a girl with severe psychomotor retardation revealed a de novo pericentric inversion of chromosome 2: 46,XX,inv(2)(p15q24.2). In order to elucidate the possible role of the inversion in the girl's abnormal phenotype, we analyzed the inversion breakpoints. FISH analysis revealed BAC clones spanning the breakpoints at 2p and 2q of the inversion. Southern blot hybridization with DNA probes from the BAC regions was used to refine the localization of the breakpoints, followed by inverse-PCR which enabled us to sequence the inversion breakpoints. We found a complex chromosomal rearrangement, including five breakpoints, four at 2q and one at 2p joined with minor insertions/deletions of a few bases. The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders. In 2q, the breakpoints disrupted two genes, TANC1 and RBMS1; the phenotypic effect of these genes is not currently known. © 2011 Wiley-Liss, Inc.
Scientific Publication
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