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Case Reports
. 1978 Mar 17;41(2):235-41.
doi: 10.1007/BF00273107.

Partial trisomy 10p in two generations

Case Reports

Partial trisomy 10p in two generations

I W Lurie et al. Hum Genet. .

Abstract

Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.

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