title: Trisomy 22: no longer an enigma.
abstract: We describe a live-born male with 47,XY,+22. He had multiple congenital anomalies, severe growth retardation and psychomotor delay. Physical manifestations included broad nasal bridge, epicanthic folds, micrognathia, long philtrum, cleft palate, microcephaly with prominent occiput, apparently low-set malformed ears, heart murmur, genital anomaly, clinodactyly of the fifth fingers, and a low total finger ridge count. He died just before his 3rd birthday. Chromosome analysis by multiple banding techniques based on lymphocyte and fibroblast cultures confirm that the boy had complete trisomy 22.
authors.affiliation: Cytogenetics Laboratory, Texas Genetic Screening and Counseling Services, Denton 76201-2467.
authors.forename: M K
authors.initials: MK
authors.lastname: Kukolich
authors.forename: A
authors.initials: A
authors.lastname: Kulharya
authors.forename: S M
authors.initials: SM
authors.lastname: Jalal
authors.forename: M
authors.initials: M
authors.lastname: Drummond-Borg
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002478:Cells, Cultured; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014314:Trisomy