Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36
نویسندگان
چکیده
منابع مشابه
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.
T he F form of acropectorovertebral dysgenesis, also called F syndrome, is a rare dominantly inherited fully penetrant skeletal disorder. The name of the syndrome is derived from the first letter of the surname of the family in which it was originally described. Major anomalies include carpal synostoses, malformation of first and second fingers with frequent syndactyly between these digits, hyp...
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Parkinson disease (PD) is the second most common neurodegenerative disorder, surpassed in frequency only by Alzheimer disease. Elsewhere we have reported linkage to chromosome 2q in a sample of sibling pairs with PD. We have now expanded our sample to include 150 families meeting our strictest diagnostic definition of verified PD. To further delineate the chromosome 2q linkage, we have performe...
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F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report a six generation Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and a...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2004
ISSN: 1468-6244
DOI: 10.1136/jmg.2003.014894