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© 1994 Oxford University Press

OTHER

Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3–q22.1

Jean-Christophe Marinoni+, Ellen Boyd1, Stephanie Sherman2 and Charles Schwartz*

1Greenwood Genetic Center, Greenwood, SC 29646, 1Mission Genetics Center Ashevflle, NC 28801 2Division of Genetics and Molecular Medicine, Emory University Atlanta, GA 30322, USA

*To whom correspondence should be addressed

Received June 1, 1994; Accepted June 1, 1994

Ectrodactyly (split hand/split foot, SHSF) is characterized by the absence of middle rays of the hand or the foot. Cytogenetic analyses of some of the cases have Indicated an association between chromosomal rearrangements Involving 7q21.3–q22 and ectrodactyly. Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (spilt hand/ split foot disorder). Here we report a large family where split hand/split foot long bone deficiency (SHFLD) segregates in an autosomal dominant mode. Linkage analysis, using microsatellite markers located in 7q21–q22, excludes this region from containing the gene responsible for SHFLD In this family. These results would appear to Indicate genetic heterogeneity exists in autosomal dominant SHSF.

+Present address: Inserm U383, Hôpital Necker—Enfants Malades, 75743 Paris Cedex 15, France


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