Deletion of the short arm of chromosome 3: a case report with necropsy findings.
A male infant with partial deletion of the short arm of chromosome 3 is described. The features this patient shares with six previously reported cases include microcephaly, dolichocephaly, micrognathia, epicanthic folds, ptosis, low set or malformed ears, postaxial polydactyly, and growth or mental retardation or both. In addition, visceral anomalies not previously reported in association with this chromosomal abnormality are described. These characteristics may constitute a recognisable clinical syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000473:pathology; D008297:Male