Document Detail


Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.
MedLine Citation:
PMID:  20860070     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: To investigate the potential influence of additional copy number variants in patients with 15q24 rearrangements and the possible underlying mechanisms for these rearrangements.
METHODS: Oligonucleotide-based chromosomal microarray analyses were performed, and the results were subsequently confirmed by fluorescence in situ hybridization analyses. Long-range polymerase chain reaction amplification and DNA sequencing analysis were used for breakpoint junction sequencing.
RESULTS: We describe a 15-year-old boy with cognitive impairment and dysmorphic features with deletions in 15q24 and 3q21, a 2-month-old female infant with growth deficiency, heterotaxy, cardiovascular malformations, intestinal atresia, and duplications in 15q24 and 16q22, and a 3.5-year-old boy with developmental delay, microcephaly, and dysmorphic features, with duplications in 15q24 and 2q36.3q37.1. Breakpoint sequencing for the 15q24 deletion in the first patient revealed microhomology and suggested the underlying mechanism of either nonhomologous end joining or fork stalling and template switching/microhomology-mediated break-induced replication.
CONCLUSIONS: The three described patients with 15q24 rearrangements have copy number variants at other loci and exhibit additional clinical features with a more severe phenotype than that observed in previously reported patients with isolated 15q24 rearrangements, suggesting that the genomic mutational load may contribute to the phenotypic severity and variability in patients with 15q24 rearrangements.
Authors:
Ayman W El-Hattab; Feng Zhang; Rolanda Maxim; Katherine M Christensen; Jewell C Ward; Stacy Hines-Dowell; Fernando Scaglia; James R Lupski; Sau Wai Cheung
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Genetics in medicine : official journal of the American College of Medical Genetics     Volume:  12     ISSN:  1530-0366     ISO Abbreviation:  Genet. Med.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-09-21     Completed Date:  2011-01-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9815831     Medline TA:  Genet Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  573-86     Citation Subset:  IM    
Affiliation:
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child, Preschool
Chromosome Deletion*
Chromosome Duplication / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 15 / genetics*
Developmental Disabilities / genetics*
Female
Gene Dosage / genetics*
Genetic Variation / genetics*
Humans
Infant
Male
Phenotype

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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