NDLI: The Xp contiguous deletion syndrome and autism.

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The Xp contiguous deletion syndrome and autism.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Shinawi, Marwan Patel, Ankita Panichkul, Prisana Zascavage, Roxanne Peters, Sarika U. Scaglia, Fernando
Description	Country affiliation: United States Author Affiliation: Shinawi M ( Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas 77030, USA.)
Abstract	Xp22 nullisomy in males causes a phenotype consistent with the loss of one or more of the genes located in this chromosomal region. Females with similar Xp deletions rarely manifest the same phenotype. Here we describe a 10-year-old girl with a de novo interstitial deletion encompassing Xp22.2p22.32 who presented with autism, moderate mental retardation, and some dysmorphic features. The deletion was delineated by FISH and STR analyses, and the breakpoints were determined using the Agilent 244 K oligonucleotide array. We found that the 5.5 Mb deletion is located on the paternal X chromosome and encompasses 18 genes. Further molecular and cytogenetic analyses showed unfavorable skewing of X-inactivation of the maternal (intact) chromosome. The phenotype of our patient was compared with previously reported female patients with deletions encompassing the same chromosomal region. We discuss the potential role of the genes in the deleted region and X chromosome inactivation in the pathogenesis of the phenotypic abnormalities seen in our patient. Our findings suggest that the severity and the variability of the clinical findings are determined by the size and the parental origin of the deletions as well as the X-inactivation status.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	149A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2009-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Autistic Disorder Genetics Chromosome Deletion Chromosomes, Human, X Child Chromosome Breakage Chromosome Mapping Cytogenetic Analysis Female Genetic Markers Humans In Situ Hybridization, Fluorescence Intellectual Disability Interview, Psychological Karyotyping Microsatellite Repeats Oligonucleotide Array Sequence Analysis Syndrome X Chromosome Inactivation Case Reports Journal Article Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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