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  • Title: Ectrodactyly and proximal/intermediate interstitial deletion 7q.
    Author: McElveen C, Carvajal MV, Moscatello D, Towner J, Lacassie Y.
    Journal: Am J Med Genet; 1995 Mar 13; 56(1):1-5. PubMed ID: 7747769.
    Abstract:
    We report on an individual with severe mental retardation, seizures, microcephaly, unusual face, scoliosis, and cleft feet and cleft right hand. The chromosomal study showed a proximal interstitial deletion 7q (q11.23q22). From our review of the literature, 11 patients have been reported with ectrodactyly (split hand/split foot malformation) and proximal/intermediate interstitial deletions or rearrangements of 7q. The critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22.1. This malformation is present in 41% of the patients whose deletion involves the critical segment.
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