Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

Here we report on a girl with minor facial anomalies, cleft palate, seizures, microcephaly, psychomotor retardation, and a congenital heart defect. Complex of cytogenetic methods [GTG‐banding, spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), multicolor banding (mBAND), and comp...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2010-09, Vol.152A (9), p.2327-2334
Main Authors: Lee, Ni‐Chung, Chen, Ming, Ma, Gwo‐Chin, Lee, Dong‐Jay, Wang, Tzu‐Jou, Ke, Yu‐Yuan, Chien, Yin‐Hsiu, Hwu, Wuh‐Liang
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
array comparative genomic hybridization
Biological and medical sciences
Chromosome Aberrations
Chromosome Breakpoints
chromosome recombination
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 6
complex chromosome rearrangement
Cytogenetic Analysis - methods
Family
Female
Gene Rearrangement
Humans
Male
Medical genetics
Medical sciences
Meiosis
multicolor banding
Sequence Deletion
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Here we report on a girl with minor facial anomalies, cleft palate, seizures, microcephaly, psychomotor retardation, and a congenital heart defect. Complex of cytogenetic methods [GTG‐banding, spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), multicolor banding (mBAND), and comparative genomic hybridization (array CGH)] showed complex chromosomal rearrangements (CCRs) involving chromosomes 6, 10, and 11 and 4 deletions at the breakpoints. Her father had an unrelated translocation between chromosomes 3 and 16, suggesting the possibility of an autosomal dominant trait that predisposes to complex synapses and recombination between multiple chromosomes during meiosis. This study demonstrates the power of combining available chromosome analysis technologies in resolving CCR. © 2010 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.33581