A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22
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چکیده
منابع مشابه
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.
Craniofrontonasal syndrome (CFNS, OMIM 304110) is a distinctive genetic disorder whose main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal tip and various skeletal anomalies. CFNS originally was thought to be transmitted as an autosomal dominant trait, but recent studies suggest that it is X-linked dominant, whereby all daughters of males are affec...
متن کاملFried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
In 1972, Fried described a large Scottish family affected by X linked mental retardation (XLMR), hydrocephalus, and mild facial dysmorphism. The phenotype has considerable similarity to the MASA syndrome, which results from mutations of the L1CAM gene in Xq28, and this family has since been assumed to be an example of this condition. We have reinvestigated the family for linkage to X chromosome...
متن کاملX-linked recessive inheritance in the Ehlers-Danlos syndrome.
Two families are described in which the Ehlers-Danlos syndrome is apparently transmitted as an X-linked recessive character. The results of tests for the Xg blood groups and for colour vision show that the locus for the Ehlers-Danlos syndrome is not close to that for the Xg groups nor very close to the locus for deutan colour-blindness.The clinical features of this variety of the Ehlers-Danlos ...
متن کاملPhenotypic heterogeneity in females with X-linked Alport syndrome
AIMS X-linked Alport syndrome (AS) is a monogenic inherited disorder of type IV collagen, a structural protein in the kidney and cochlea. Males typically exhibit a severe phenotype with end-stage renal disease (ESRD) and/or deafness by early adulthood. Because of the presence of two X chromosomes, females often have a less severe phenotype and hence the diagnosis of AS is often not considered. ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1997
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/6.11.1937