Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly
نویسندگان
چکیده
منابع مشابه
Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree
Preaxial polydactyly (PPD) is congenital hand malformation characterized by the duplication of digit. Herein, we scan the genome-wide SNPs for a large Chinese family with PPD-II/III. We employ the refined IBD algorithm to identify the identity-by-decent (IBD) segments and compare the frequency among the patients and normal relatives. A total of 72 markers of 0.01 percentile of the permutation a...
متن کاملPreaxial polydactyly of the foot
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review wa...
متن کاملAn increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family
Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD...
متن کاملAn unusual case of preaxial polydactyly of the hand
Preaxial polydactyly is the most common duplication pattern in white and Asian populations (1). It is a congenital anomaly with a wide range of manifestations .Current classification do not have the capacity to classify all different types of radial polydactyly. We describe here a very rare and unusual case of bilateral preaxial polydactyly (triplication) in a woman and report the operations re...
متن کاملEpidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM)
BACKGROUND Polydactyly represents a heterogeneous group of congenital hand and foot anomalies with variable clinical features and diverse etiology. Preaxial polydactyly type I (PPD1) is the most frequent form of preaxial polydactyly. The etiology of sporadic PPD1 remains largely unknown and the relative contribution of genetic and environmental factors is not clearly defined. The primary goals ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2008
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2008.240