Fragile site at 12q13 associated with phenotypic abnormalities.
Open Access
- 1 June 1984
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 21 (3) , 216-217
- https://doi.org/10.1136/jmg.21.3.216
Abstract
A dysmorphic 3 year old boy with severe psychomotor retardation is described. His karyotype was 45,XY,t(13q;14q)rob, fra (12q13). The relationship between fra(12q13) and the clinical picture is discussed.Keywords
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- The constitutional fragility of chromosome 12 in a case of 46,XX,var(12)(qh?,RHG,GAG,CBG)Human Genetics, 1979
- Constitutional chromosomal breakageHuman Genetics, 1976