Tandem duplication of chromosome 14 (q12q13).
A nine-years-old Egyptian boy was referred for speech and language delay. He has an I.Q. of 35 which is in the moderately to severely delayed range. Routine cytogenetic and FISH-techniques revealed a de novo tandem duplication of chromosome 14 bands q12 and q13, i.e., 46, XY, dup (14)(q12q13) and there are no investigations reporting a direct de novo duplication for this region.
Verma
R S
RS
Division of Genetics, Stanley S. Lamm Institute for Child Neurology and Developmental Medicine, Long Island College Hospital-SUNY Health Science Center, Brooklyn 11201, USA.
Kleyman
S M
SM
Conte
R A
RA
Laqui-Pili
C
C
Bennett
H
H
D002648:Child; D002883:Chromosomes, Human, Pair 14; D006801:Humans; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*