Newborn infant with del(9)(pter----q32:) and multiple congenital anomalies including arrhinencephaly, cardiac malformations, and rudimentary ears.
A deletion of the long arm of chromosome 9(pter----q32:) in a newborn infant at 38 weeks of gestation was associated with a syndrome of arrhinencephaly, rudimentary ears, hypoplastic lungs and ureters, redundant nuchal skin folds, and congenital heart defects. Other findings included a Sydney line, macrocephaly, talipes equinovarus, oligohydramnios, and amnion nodosum. Detailed pathologic observations and the chromosome abnormality are described.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D004423:Ear / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008032:Limbic System / Q000002:abnormalities