A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)
Prenat Diagn
; 12(6): 529-34, 1992 Jun.
Article
en En
| MEDLINE
| ID: mdl-1513756
ABSTRACT
A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28-year-old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister-Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH-B activity was demonstrated in fibroblasts.
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Banco de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Anomalías Múltiples
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Cromosomas Humanos Par 12
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Aberraciones Cromosómicas
/
Mosaicismo
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Año:
1992
Tipo del documento:
Article