title: A paternally derived inverted duplication of distal 14q with a terminal 14q deletion.
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.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Chyi-Chyang
authors.initials: CC
authors.lastname: Lin
authors.forename: Yueh-Chun
authors.initials: YC
authors.lastname: Li
authors.forename: Tzu-Hao
authors.initials: TH
authors.lastname: Wang
authors.forename: Chen-Chi
authors.initials: CC
authors.lastname: Lee
authors.forename: Chen-Wen
authors.initials: CW
authors.lastname: Pan
authors.forename: Lie-Jiau
authors.initials: LJ
authors.lastname: Hsieh
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: 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