Trisomy 22: no longer an enigma.
Am J Med Genet
; 34(4): 541-4, 1989 Dec.
Article
em En
| MEDLINE
| ID: mdl-2624265
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 22
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
1989
Tipo de documento:
Article