NDLI: 2q31.2q32.3 deletion syndrome: report of an adult patient.

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2q31.2q32.3 deletion syndrome: report of an adult patient.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Prontera, Paolo Bernardini, Laura Stangoni, Gabriela Capalbo, Anna Rogaia, Daniela Ardisia, Carmela Novelli, Antonio Dallapiccola, Bruno Donti, Emilio
Description	Country affiliation: Italy Author Affiliation: Prontera P ( Medical Genetics Unit, University of Perugia, Perugia, Italy.)
Abstract	A 36-year-old patient with a disorder characterized by severe mental retardation, behavioral problems, dysmorphic face, 'muscular build,' and hand/foot anomalies, is reported. Following a diagnosis of de novo pericentric inversion of chromosome 8 based on standard cytogenetic analysis, a subsequent 75 kb array-CGH investigation disclosed a deletion spanning for about 13.7 Mb in the 2q31.2q32.3 region. Whole painting of chromosome 8 established the intrachromosomal nature of the rearrangement and FISH analysis with locus-specific probes confirmed the deletion on the long arm of chromosome 2. The deleted region, clinical outcome, and medical history in this patient are mainly superimposable to those reported in a published 8-year-old boy, suggesting that this genomic segment is prone to rearrangements and its hemizygosity gives rise to a clinically recognizable syndrome. The role of some genes mapping in the deleted region and related with distinct disorders is discussed. Interestingly, deletion of MSTN gene, a negative regulator of muscle growth, was associated in our patient with a 'muscular build,' a feature which could be regarded as a handle for clinical recognition of this syndrome.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Volume Number	149A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2009-02-15
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Chromosome Deletion Chromosomes, Human, Pair 2 Intellectual Disability Adult Chromosome Inversion Chromosomes, Human, Pair 8 Comparative Genomic Hybridization Craniofacial Abnormalities Foot Deformities, Congenital Hand Deformities, Congenital Humans In Situ Hybridization, Fluorescence Male Myostatin Phenotype Syndrome Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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