Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3

J Ignatius; S Knuutila; S W Scherer; B Trask; J Kere

doi:10.1136/jmg.33.6.507

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3

J Med Genet. 1996 Jun;33(6):507-10. doi: 10.1136/jmg.33.6.507.

Authors

J Ignatius¹, S Knuutila, S W Scherer, B Trask, J Kere

Affiliation

¹ Department of Medical Genetics, Väestöliitto, Family Federation of Finland, Helsinki, Finland.

Abstract

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, including a translocation breakpoint at 7q21.3 near the DSS1 gene. In addition to ectrodactyly of all four limbs, the patient has congenital deafness, submucous cleft palate, microcephaly, and mental retardation. This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Chromosomes, Human, Pair 7*
Deafness / genetics*
Foot Deformities, Congenital / genetics*
Foot Deformities, Congenital / pathology
Hand Deformities, Congenital / genetics*
Hand Deformities, Congenital / pathology
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability / genetics*
Male
Middle Aged
Translocation, Genetic