Premium
On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome
Author(s) -
Martini G.,
Carillo G.,
Catizone F.,
Notarangelo A.,
Mingarelli R.,
Dallapiccola B.
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970130811
Subject(s) - aneuploidy , amniotic fluid , medicine , fetus , ultrasonography , prenatal diagnosis , obstetrics , pregnancy , gynecology , biology , surgery , genetics , chromosome , gene
Abstract A 49, 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.