Familial half cryptic translocation t(9;17).
Open Access
- 1 September 1994
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (9) , 712-714
- https://doi.org/10.1136/jmg.31.9.712
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.Keywords
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