Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype.
Prenat Diagn
; 25(8): 653-5, 2005 Aug.
Article
em En
| MEDLINE
| ID: mdl-16049989
ABSTRACT
We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)[14]/46,XX[1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most likely to be phenotypically and cytogenetically normal after birth. So we performed CGH and array-CGH to exclude another possible imbalance. We discuss here the possible relation between this chromosomal abnormality and the abnormal phenotype.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 20
/
Isocromossomos
/
Hidrocefalia
/
Mosaicismo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
2005
Tipo de documento:
Article