Abstract
A 7-year-old girl is described with a de novo deletion of the short arm of chromosome 10 (qter→p13:). The clinical features of: mental retardation, a large asymmetric head, antimongoloid slant, exophthalmos, epicanthus, ptosis, abnormal ears, pectus excavatum and widely spaced nipples are compared with those of five earlier reported cases with a deletion 10p. The data available suggest the existence of a clinically recognizable monosomy 10p syndrome.
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Pater, J.M.Kd., Bijlsma, J.B. & Alkema, F.M.J. Partial monosomy 10p syndrome. Eur J Pediatr 137, 243–246 (1981). https://doi.org/10.1007/BF00441326
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DOI: https://doi.org/10.1007/BF00441326