Familial partial trisomy 5p resulting from segregation of an insertional translocation.
A case of duplication of segment p13-p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. Some of the apparently balanced carriers of the inverted insertion showed minor congenital anomalies.
Gustavson
K H
KH
Department of Clinical Genetics, Academic Hospital, Uppsala, Sweden.
Lundberg
P O
PO
Nicol
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002893:Chromosomes, Human, Pair 3; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy