Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis.
Prenat Diagn
; 18(12): 1289-93, 1998 Dec.
Article
em En
| MEDLINE
| ID: mdl-9885021
ABSTRACT
We describe perinatal findings in a female fetus with partial trisomy 8q(8q24.1-->8qter) and partial monosomy 15q(15q26.1-->15qter) resulting from a paternal t(8;15) reciprocal translocation. Prenatal sonographic examination showed intra-uterine growth retardation, bilateral ventriculomegaly, cardiomegaly with arrhythmia, anhydramnios, and absent kidney and urinary bladder images. The pregnancy was terminated at 28 weeks of gestation. At birth, the infant manifested typical dysmorphic features of partial trisomy 8q. Necropsy further revealed hydrocephalus, congenital diaphragmatic hernia, ventricular septal defect, a horseshoe kidney with renal hypoplasia, and kyphoscoliosis. Our case shows that the coexistence of partial trisomy 8q24.1-->8qter and partial monosomy 15q26.1-->15qter are more detrimental than either defect alone and can result in a complex of major malformations. Prenatal ultrasound examination and cytogenetic assessment should be offered in subsequent pregnancies.
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Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Anormalidades Múltiplas
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Cromossomos Humanos Par 8
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Cromossomos Humanos Par 15
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Monossomia
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adult
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Female
/
Humans
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Male
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Pregnancy
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article