Brief clinical report: deletion of the long arm of chromosome 11, [del(11)(q23)].
We report sporadic occurrence of deletion of the long arm of chromosome 11 (q23 leads to qter) in a male newborn infant with intrauterine growth retardation, craniofacial, cardiac, and orthopedic abnormalities and neonatal death but without genital abnormalities. This deletion is seen predominantly in females; here we emphasize the importance of an XX sex chromosome constitution as a factor determining phenotypic expression of and survival in the del(11q) syndrome. We also provide a description of the cardiovascular system from postmortem examination. The cardiac findings are similar to those of two previously autopsied cases and will assist in early clinical diagnosis of the 11q-syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001013:Aorta, Thoracic / Q000002:abnormalities; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D014339:Truncus Arteriosus, Persistent / Q000235:genetics; D014960:X Chromosome