Partial trisomy 6p due to maternal t(1;6) translocation.
Partial trisomy 6p with duplications ranging from 6p21 to 6p25 is emerging as an established syndrome. A case of duplication of segment p22-p25 of the short arm of chromosome 6 as the result of a maternal t (1;6)(q44;p22.2) translocation in a mentally retarded girl with congenital anomalies is reported here. The associated phenotypic anomalies are compared with other reported cases of duplication 6p involving adjacent regions.
Song
M
M
State Key Laboratory of Medical Genetics, Hunan Medical University, Changsha, P.R. China.
Li
L
L
D000328:Adult; D002878:Chromosomes, Human, Pair 1; D002896:Chromosomes, Human, Pair 6; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D014178:Translocation, Genetic; D014314:Trisomy