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

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 similar to 4.79-Mb deletion of 3p26.2 -> pter encompassing CHL1 and CNTN4, and a similar to 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.