Familial half cryptic translocation t(9;17).
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.
Köhler
A
A
Institut für Humangenetik, Justus-Liebig-Universität Giessen, Germany.
Hain
J
J
Müller
U
U
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic