Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.
A 1-year-and-3-month-old girl presented with psychomotor retardation, developmental delay, clinodactyly of the thumb, coarctation of the aorta, patent ductus arteriosus, peripheral pulmonary stenosis, atrial septal defect, microcephaly, brachycephaly, a small oval face, almond-shaped eyes, a down-turned mouth, a widened nasal bridge, hypertelorism, epicanthic folds, long philtrum, low-set large ears and but no craniosynostosis. Oligonucleotide-based array comparative genomic hybridization revealed a -4.79-Mb deletion of 3p26.2 --> pter encompassing CHL1 and CNTN4, and a -19.56-Mb duplication of 5q34 --> qter encompassing MSX2, NKX2-5 and NSD1. The karyotype of the girl was 46,XX,der(3)t(3;5)(p26.2;q34) pat. The present case adds distal 5q duplication to the list of chromosome aberrations associated with coarctation of the aorta.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. cpc_mmh@yahoo.com
C P
CP
Chen
S P
SP
Lin
M R
MR
Chen
Y N
YN
Su
S R
SR
Chern
Y P
YP
Liu
J W
JW
Su
M S
MS
Lee
W
W
Wang
D000015:Abnormalities, Multiple / Q000235:genetics*; D001017:Aortic Coarctation / Q000235:genetics*; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D008831:Microcephaly / Q000235:genetics; D014314:Trisomy / Q000235:genetics*