Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling.
Clin Genet
; 48(6): 308-12, 1995 Dec.
Article
em En
| MEDLINE
| ID: mdl-8835326
ABSTRACT
Chorionic villus sampling performed for advanced maternal age revealed trisomy 3 in 20% of mitoses studied after a semi-direct chromosomal harvest. Amniocytes and cord blood showed a non-mosaic 46,XY karyotype. The birthweight of the normal newborn was at the tenth percentile. Analysis of term placenta by cytogenetics and by fluorescent in situ hybridization (FISH) confirmed the presence of the trisomy 3 in 20% and 12%, respectively, of cells from two peripheral placental biopsies. Placental histology was heterogeneous, some portions showing immature, edematous and undervascularized villi. DNA analysis confirmed the biparental origin of the chromosomes 3 in the child, whose development is normal at 36 months.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Cromossomos Humanos Par 3
/
Amostra da Vilosidade Coriônica
Tipo de estudo:
Systematic_reviews
Limite:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Suíça