Duplication 5q(5q22----5q33): from an intrachromosomal insertion.
We report on an infant with an as yet undescribed partial duplication 5q(q22----5q33). He had a number of the already recorded manifestations of partial trisomy 5q, namely microcephaly, growth retardation, brachydactyly, long flat philtrum, thin upper lip vermilion and downturned angles of mouth and apparently low set ears. He survived only 6 months. He inherited his duplication from a maternal intrachromosomal insertion; thus he represents a pure dup(5)(q22----5q33).
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002905:Chromosomes, Human, 4-5; D003434:Crossing Over, Genetic; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008957:Models, Genetic; D014314:Trisomy