The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.
Prenat Diagn
; 22(2): 141-3, 2002 Feb.
Article
em En
| MEDLINE
| ID: mdl-11857621
ABSTRACT
We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, feeding difficulties, and evidence of hypertrophic cardiomyopathy. The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 14
/
Aberrações Cromossômicas
/
Dissomia Uniparental
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article