Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.
نویسندگان
چکیده
We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 and GS1.
منابع مشابه
Short reports Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy
We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between...
متن کاملDetection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.
BACKGROUND Contiguous gene syndrome (CGS) is characterized by a series of clinical features resulting from interstitial or terminal deletions of various adjacent genes. Several important genes have been identified in the Xp22.3 region to be responsible for genetically heterogeneous diseases. In this study, fluorescence in situ hybridization (FISH) methods were used to detect the extent of gene ...
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BACKGROUND X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). CASE PRESENTATION We ...
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Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropinreleasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes...
متن کاملگزارش دو مورد بیمار مبتلا به سندرم راد
Rud syndrome is a rare disease entity that consists of congenital ichthyosis, mental retardation, hypogonadism, and epilepsy. In this article two cases that are sibling are reported. The parents are relative. The elder one who is a 16-yr old female suffers from sever ichthyosis, hypocalcemic tetany, sever mental and grown retardation, and hypogonadism. In the second patient a 9-yr old male the ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 37 8 شماره
صفحات -
تاریخ انتشار 2000