Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients

Details

Serval ID
serval:BIB_E4EF4792E0A8
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients
Journal
American Journal of Medical Genetics: Part A
Author(s)
Martinet D., Filges I., Besuchet Schmutz N., Morris M.A., Gaide A.C., Dahoun S., Bottani A., Addor M.C., Antonarakis S.E., Beckmann J.S., Béna F.
ISSN
1552-4833
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
146A
Number
16
Pages
2094-2102
Language
english
Abstract
We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8-month-old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She has severe developmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia since the age of 6 months. Patient 2 is a 5-year-old male born with normal growth parameters and unilateral hip dysplasia; he has a characteristic facial phenotype, bilateral embryotoxon, and moderate mental retardation. Further characterization of the deletion, using high-resolution array comparative genomic hybridization (array-CGH; Agilent Human Genome kit 244 K), revealed that Patient 1 has a 8.1 Mb 6pter-6p24.3 deletion associated with a contiguous 5.8 Mb 6p24.3-6p24.1 duplication and Patient 2 a 5.7 Mb 6pter-6p25.1 deletion partially overlapping with that of Patient 1. Complementary FISH and array analysis showed that the inv del dup(6) in Patient 1 originated de novo. Our results demonstrate that simple rearrangements are often more complex than defined by standard techniques. We also discuss genotype-phenotype correlations including previously reported cases of deletion 6p.
Keywords
Abnormalities, Multiple, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 6, Craniofacial Abnormalities, Developmental Disabilities, Female, Genotype, Humans, In Situ Hybridization, Fluorescence, Infant, Inversion, Chromosome, Karyotyping, Male, Mental Retardation, Oligonucleotide Array Sequence Analysis, Phenotype
Pubmed
Web of science
Create date
22/01/2009 12:49
Last modification date
20/08/2019 16:08
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