منابع مشابه
A novel acropectoral syndrome maps to chromosome 7q36.
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...
متن کاملType II syndactyly or synpolydactyly.
A new family with syndactyly type II or synpolydactyly is described with 16 affected members in six generations. No other major skeletal or extraskeletal malformations were present, but the association with minor local anomalies may be a common feature. Various metacarpal or metatarsal abnormalities may be part of this type of syndactyly. The family pedigree confirms the autosomal dominant mode...
متن کاملA genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36.
High myopia often appears as a familial disease. It is usually defined as a refraction error equal to or below −6 diopters (D) in each eye. Highly myopic patients represent 27-33% of the myopic population. The prevalence of the disease in the general population varies according to the country, from 2.1% in the USA, to 3.2% in France, and up to 9.6% in Spain. High myopia is also termed “patholog...
متن کاملSyndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia.
We report on a newborn girl with syndactyly type IV, hexadactyly of feet, and right tibial hemimelia. She has 5 other relatives with identical anomalies of the hands and feet transmitted as an autosomal dominant trait. Syndactyly type IV is rare as is absence of the tibia. We suggest the possibility that syndactyly type IV may be a more complex entity, including lower limb malformations, and tr...
متن کاملA newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.
Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by congenital hearing loss combined with retinitis pigmentosa. This dual sensorineural deficiency is transmitted in an autosomal recessive mode. Usher syndrome type I (USH1) is the most severe form. Four loci responsible for USH1 (USH1A, 1B, 1C and 1D) have previously been mapped, among which only the USH1...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2007
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-007-0150-5