The phenotypic and cytogenetic spectrum of partial trisomy 9.
Am J Med Genet
; 20(2): 277-82, 1985 Feb.
Article
em En
| MEDLINE
| ID: mdl-3976721
ABSTRACT
A new patient with trisomy for the chromosome segment 9pter----q22 is compared to 19 previously reported cases of partial trisomy 9. Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down-turned corners of the mouth are common to patients with trisomic segments extending from 9p21 to 9q13, while intra-uterine growth retardation, cleft lip/palate, skeletal anomalies, and heart defects are more common with trisomic segments extending through 9q22-9q32. A graphic method illustrates this progression in the partial trisomy 9 malformation spectrum as the triplicated chromosome region extends from bands 9p21 to 9q32. More severe and random defects are observed with complete trisomy 9 or tetrasomy 9p, suggesting an extreme excess of material greatly increases developmental variability.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Anormalidades Múltiplas
/
Cromossomos Humanos 6-12 e X
/
Deficiência Intelectual
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
1985
Tipo de documento:
Article