An apparently balanced translocation, t(2;7)(q21.1;q22.1) was detected in a female patient with bilateral split hand and right split foot. Split hand/split foot (SHSF) segregated as an autosomal dominant character with low penetrance in her family. The translocation was present in 6 of 13 additional relatives investigated, one of whom also had split hand on right. This observation provides further confirmation of the presence of a locus for SHSF on 7q and narrows the critical region to band 7q22.1. Defects caused by alterations of this chromosome region are variable and include manifestations of both syndromal and non-syndromal SHSF. Review of SHSF cases associated with chromosome 7 abnormalities showed a preferential involvement of the lower limbs and of the right side, suggesting the action of locally restricted developmental resistance mechanisms.
The most recent classification of the oral-facial-digital syndromes (OFDS) includes 7 types distinguishable by different clinical signs. We describe 2 brothers presenting oral, facial, and digital anomalies and an additional manifestation consisting of specific retinal abnormalities, i.e., retinochoroideal lacunae of colobomatous origin. Our patients may be affected with a new type of OFDS, i.e., OFDS type VIII, characterized by eye abnormalities in addition to other manifestations that partially overlap with those of OFDS type II. Given that there are 2 affected brothers, we cannot distinguish between autosomal and X-linked recessive inheritance.
We report on an infant with partial tetrasomy of chromosome 9 due to the presence in her peripheral lymphocytes and in 55% of skin fibroblasts of an isochromosome 9 comprised of the p arm and of a portion of the q arm extending to band q21.1. The phenotype is comparable to that of other cases with a similar chromosome aberration, with multiple joint dislocations as a prominent manifestation.
We describe 4 sibs, 2 males and 2 females, affected with a new autosomal recessive MCNMR syndrome of short stature, cerebral atrophy, epilepsy, skeletal abnormalities, and moderate to severe mental retardation.0 1992 Wiley-Liss, Inc.
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