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Title: De novo direct duplication of chromosome segment 22q11.2-q13.1

Abstract

Lindsay et al. [1995] reported a case of de novo duplication of the segment 22q11-q12. Molecular cytogenetics studies showed that the segment includes the regions responsible for the {open_quotes}cat eye,{close_quotes} DiGeorge, and velo-cardio-facial syndrome, and extends distal to the breakpoint cluster region. The phenotype was milder than that of complete trisomy 22 and der(22)t(11;22) (q23;q11) syndrome and was similar in type and severity to that of {open_quotes}cat eye{close_quotes} syndrome (CES). They suggested that trisomy of gene(s) responsible for the CES might have a predominant phenotypic effect over other genes present in the region duplicated in their patient. 3 refs., 2 figs.

Authors:
;  [1]
  1. Univ. of Southern California, Los Angeles, CA (United States)
Publication Date:
OSTI Identifier:
426146
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 62; Journal Issue: 3; Other Information: PBD: 29 Mar 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 22; CHROMOSOMAL ABERRATIONS; GENETIC MAPPING; HEREDITARY DISEASES; DIAGNOSIS; PATIENTS; CONGENITAL MALFORMATIONS; PHENOTYPE; MENTAL DISORDERS; GENES; GENE MUTATIONS; BANDING TECHNIQUES; PROBES; BIOLOGICAL MARKERS; DNA HYBRIDIZATION; FLUORESCENCE

Citation Formats

Fujimoto, Atsuko, and Lin, Ming S. De novo direct duplication of chromosome segment 22q11.2-q13.1. United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19960329)62:3<300::AID-AJMG19>3.3.CO;2-3.
Fujimoto, Atsuko, & Lin, Ming S. De novo direct duplication of chromosome segment 22q11.2-q13.1. United States. https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<300::AID-AJMG19>3.3.CO;2-3
Fujimoto, Atsuko, and Lin, Ming S. 1996. "De novo direct duplication of chromosome segment 22q11.2-q13.1". United States. https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<300::AID-AJMG19>3.3.CO;2-3.
@article{osti_426146,
title = {De novo direct duplication of chromosome segment 22q11.2-q13.1},
author = {Fujimoto, Atsuko and Lin, Ming S},
abstractNote = {Lindsay et al. [1995] reported a case of de novo duplication of the segment 22q11-q12. Molecular cytogenetics studies showed that the segment includes the regions responsible for the {open_quotes}cat eye,{close_quotes} DiGeorge, and velo-cardio-facial syndrome, and extends distal to the breakpoint cluster region. The phenotype was milder than that of complete trisomy 22 and der(22)t(11;22) (q23;q11) syndrome and was similar in type and severity to that of {open_quotes}cat eye{close_quotes} syndrome (CES). They suggested that trisomy of gene(s) responsible for the CES might have a predominant phenotypic effect over other genes present in the region duplicated in their patient. 3 refs., 2 figs.},
doi = {10.1002/(SICI)1096-8628(19960329)62:3<300::AID-AJMG19>3.3.CO;2-3},
url = {https://www.osti.gov/biblio/426146}, journal = {American Journal of Medical Genetics},
number = 3,
volume = 62,
place = {United States},
year = {Fri Mar 29 00:00:00 EST 1996},
month = {Fri Mar 29 00:00:00 EST 1996}
}