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 f...

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Veröffentlicht in:	Journal of medical genetics 1994-09, Vol.31 (9), p.712-714
Hauptverfasser:	Köhler, A, Hain, J, Müller, U
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biological and medical sciences Brain - abnormalities Chromosome aberrations Chromosome Deletion Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 9 Female Fluorescence in situ hybridization Humans In Situ Hybridization, Fluorescence Intellectual disabilities Karyotypes Karyotyping Lissencephaly Male Medical genetics Medical sciences Palate Pedigree Research Article Translocation, Genetic Vertebrae
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Zusammenfassung:	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.
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.31.9.712