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J Med Genet. 1994 Sep;31(9):712-4.

Familial half cryptic translocation t(9;17).

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1
Institut für Humangenetik, Justus-Liebig-Universität Giessen, Germany.

Abstract

A half cryptic translocation t(9;17) (p24.2; p13.3) was detected in a large family by fluorescence in situ hybridisation. Unbalanced karyotypes resulted either in lissencephaly and early death or in mental retardation, microcephaly, high arched palate, and deformities of the vertebrae. Some of the features observed in affected persons are characteristic of known syndromes involving either 17p or 9p.

PMID:
7815441
PMCID:
PMC1050082
[Indexed for MEDLINE]
Free PMC Article
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