Two sibs with partial trisomy 2q.
We report on two sibs with facial anomalies and developmental delay. Partial trisomy 2q was detected only after parental chromosome studies showed the father to carry a balanced interchromosomal insertion of 2 (q24.3-q32.1) into 5q.
Barnicoat
A J
AJ
Department of Medical and Molecular Genetics, United Medical and Dental School, Guy's Hospital, London, United Kingdom.
Abusaad
I
I
Mackie
C M
CM
Robards
M F
MF
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000151:congenital; D006801:Humans; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009666:Nose / Q000002:abnormalities; D014314:Trisomy