Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

Abstract Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion o...

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Bibliographic Details
Published in:European journal of medical genetics 2013-01, Vol.56 (1), p.62-65
Main Authors: Rocca, Maria Santa, Faletra, Flavio, Devescovi, Raffaella, Gasparini, Paolo, Pecile, Vanna
Format: Article
Language:English
Subjects:
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 2
Comparative Genomic Hybridization
Cryptorchidism
Cryptorchidism - genetics
Deletion 2p23
Developmental Disabilities - genetics
DTNB
Facies
Humans
Infant
Male
Medical Education
Muscle Hypotonia - genetics
Phenotype
Polymorphism, Single Nucleotide
SNP array
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Summary:Abstract Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, overweight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2012.10.008