The Xp contiguous deletion syndrome and autism.

Am J Med Genet A 2009 Jun;149A(6):1138-48

Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas 77030, USA.

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.

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http://dx.doi.org/10.1002/ajmg.a.32833DOI Listing
June 2009
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References

(Supplied by CrossRef)
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
Allen et al.
Am J Hum Genet 1992

Barch et al.
1997
Escapees on the X chromosome
Disteche et al.
Proc Natl Acad Sci USA 1999
XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning
Fryns et al.
Genet Couns 1995

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