A paternally derived inverted duplication of distal 14q with a terminal 14q deletion.
A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dysmorphism. She demonstrated common features of both 14q31-qter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arteriosus and pyloric stenosis in infancy. Her karyotype was 46,XX,der(14) dup(14)(q32.3 q31.3)del(14)(q32.3). Molecular cytogenetic analysis showed a paternally derived 14q31.3-q32.3 duplication and a terminal 14q deletion and led to the correlations between a particular genotype and phenotype. This is the first description of a deletion and inverted duplication of 14q, and adds 14q to the growing list of the inverted duplication associated with a terminal deletion.
Chen
Chih-Ping
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com
Chern
Schu-Rern
SR
Lin
Shuan-Pei
SP
Lin
Chyi-Chyang
CC
Li
Yueh-Chun
YC
Wang
Tzu-Hao
TH
Lee
Chen-Chi
CC
Pan
Chen-Wen
CW
Hsieh
Lie-Jiau
LJ
Wang
Wayseen
W
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002883:Chromosomes, Human, Pair 14; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male