Partial trisomy of 15q due to inserted inverted duplication.
A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3 --> 15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan-like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.
Elçioglu
N
N
Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.
Fear
C
C
Berry
A C
AC
D000293:Adolescent; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007805:Language Development Disorders / Q000235:genetics; D008297:Male; D005810:Multigene Family; D014314:Trisomy