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[Balanced chromosome abnormalities with abnormal phenotype].

作者信息

Fryns J P

机构信息

Centre for Human Genetics, University of Leuven.

出版信息

J Genet Hum. 1988 Jan;36(1-2):33-6.

PMID:3379377
Abstract

In this report we summarized our experience (1970-1986) on autosomal reciprocal translocations with particular interest towards the possible excess of mental retardation and congenital malformations in carriers of apparently balanced chromosomal rearrangements. The present data confirm the previous findings that the association of MR/MCA and apparently balanced autosomal chromosomal rearrangements is much higher than expected by chance.

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