Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference9 articles.
1. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases
2. Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
3. Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families
4. Complex chromosome rearrangements and congenital anomalies
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1. A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report;BMC Medical Genomics;2020-10-06
2. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing theHMGB1andKATNAL1genes;American Journal of Medical Genetics Part A;2014-03-24
3. De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype;American Journal of Medical Genetics Part A;2012-08-17
4. Balanced complex chromosome rearrangements: Reproductive aspects. A review;American Journal of Medical Genetics Part A;2012-03-01
5. 13q13.1–q13.2 deletion in tetralogy of Fallot: Clinical report and a literature review;International Journal of Cardiology;2011-01
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