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On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome |
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| Authors: | G. Martini G. Carillo F. Catizone A. Notarangelo R. Mingarelli B. Dallapiccola MD |
| Affiliation: | 1. Centro di Diagnosi Prenatale ‘Partemisia’, Napoli, Italy;2. Divisione di Ostetricia e Ginecologia, Ospedale di Rossano Calabro, Italy;3. Servizio di Genetica Medica, Ospedale C.S.S., San Giovanni Roiondo, Italy;4. Servizio di Genetica Medica, Ospedale C.S.S., San Giovanni Roiondo, Italy Cattedra di Genetica Umana, Università ‘Tor Vergata’, Roma, Italy |
| Abstract: | 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. |
| Keywords: | 49,XXXXX Pentasomy X Prenatal diagnosis Non-disjunction Ovary atrophy Molecular analysis |