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A paternally derived inverted duplication of distal 14q with a terminal 14q deletion
Chih-Ping Chen1, Schu-Rern Chern, Shuan-Pei Lin
1Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com
Abstract:
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.
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