Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.
نویسندگان
چکیده
منابع مشابه
Split-hand/split-foot malformation associated with maternal valproate consumption.
Neurology India | June 2005 | Vol 53 | Issue 2 tions or consanguinity. Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod, presenting with syndactyly, median clefts in hand or foot and aplasia or hypoplasia of metacarpals or metatarsals. Failure to maintain median apical ectodermal ridge (AER) signaling is the main pathogenic mechanism for...
متن کاملEvidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.
Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the locus has been designated SHFD1. ...
متن کاملSplit hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development
Genetic aberrations of several unlinked loci cause human congenital split hand/foot malformation (SHFM) development. Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. To resolve this paradox, we ...
متن کاملMulticystic Renal Dysplasia in a Child with Split Hand/Split Foot Malformation
Split hand/split foot malformation is a human developmental disorder characterized by missing central digits and other distal limb malformations. Multicystic renal dysplasia is the most common cause of an abdominal mass in the new born period and is the most common cystic malformation of the kidney in infancy. Here, we report a case of split hand/split foot malformation with a submucosed cleft ...
متن کاملSplit hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, inclu...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1996
ISSN: 1468-6244
DOI: 10.1136/jmg.33.12.996