De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome.
A newborn male infant was found to have an unusual pattern of congenital anomalies associated with an apparently balanced de novo reciprocal translocation: 46,XY,t(1;2)(p22;q22). The infant had a previously apparently undescribed multiple congenital anomalies and mental retardation syndrome.
Chitayat
D
D
Department of Medical Genetics, Shaughnessy Hospital, Vancouver, Canada.
Fagerstrom
C L
CL
Kalousek
D K
DK
Rootman
J
J
Taylor
G P
GP
Hall
J G
JG
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002889:Chromosomes, Human, Pair 2; D005124:Eye Abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic