TY - JOUR T1 - Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. JF - Journal of Medical Genetics JO - J Med Genet SP - 507 LP - 510 DO - 10.1136/jmg.33.6.507 VL - 33 IS - 6 AU - J Ignatius AU - S Knuutila AU - S W Scherer AU - B Trask AU - J Kere Y1 - 1996/06/01 UR - http://jmg.bmj.com/content/33/6/507.abstract N2 - 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. ER -