Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3
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چکیده
منابع مشابه
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.
A case of bilateral split hand and split foot malformation is reported in a boy with a complex rearrangement of chromosome 7 including a de novo interstitial deletion of 7q21.3. The apparent association between interstitial deletion of the proximal long arm of chromosome 7 involving 7q21 and ectrodactyly (split hand/split foot malformation) was recognised in 1989 by Tajara et al,' who reported ...
متن کاملBilateral split hand/foot malformation and inv(7)(p22q21.3).
A boy with typical tetramelic split hands and feet is described. In addition, there was a large arteriovenous malformation of the right arm. Chromosome studies showed a pericentric inversion of chromosome 7: 46,XY,inv(7)(p22q21.3). Inspection of the extremities and chromosome studies in the parents were normal. This case confirms the suggested localisation of a locus, important for early limb d...
متن کاملSplit-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 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...
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 ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.7.479