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Ectrodactyly and proximal/intermediate interstitial deletion 7q.

C McElveen·M V Carvajal·D Moscatello·J Towner·Y Lacassie
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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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Abnormalities, MultipleAdultChromosome BandingChromosome DeletionChromosome MappingChromosomes, Human, Pair 7FemaleFoot Deformities, CongenitalHand Deformities, CongenitalHumansCase ReportsJournal ArticleReview

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BibTeXRIS

C McElveen, M V Carvajal, D Moscatello, J Towner, Y Lacassie. 1995-03-13. Ectrodactyly and proximal/intermediate interstitial deletion 7q.. https://doi.org/10.1002/ajmg.1320560102

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