Total: 1 |
|
PMID (PMCID) | ||
---|---|---|
23072190 |
FEMALE | Infant |
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. | ||
Chen CP, Lin SP, Chen MR, Su YN, Chern SR, Liu YP, Su JW, Lee MS, Wang W. Genet Couns. 2012;23(3):405-13. |
||
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. |