On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome
| Autor: | F. Catizone, Bruno Dallapiccola, Angelo Notarangelo, G. Martini, G. Carillo, Rita Mingarelli |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Adult
Male medicine.medical_specialty Amniotic fluid X Chromosome Aneuploidy Prenatal diagnosis Biology Ultrasonography Prenatal Pregnancy Internal medicine Prenatal Diagnosis medicine Humans Genetics (clinical) X chromosome Cells Cultured Gynecology Fetus Obstetrics and Gynecology Syndrome medicine.disease Amniotic Fluid Molecular analysis Endocrinology Pregnancy Trimester Second Female 49 XXXXX |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 0197-3851 |
| Popis: | A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text