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Prenatal sonographic diagnosis of the 49,XXXXY syndrome
Author(s) -
Schluth Caroline,
Doray Bérénice,
GirardLemaire Françoise,
Kohler Monique,
Langer Bruno,
Gasser Bernard,
Lindner Véronique,
Flori Elisabeth
Publication year - 2002
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.473
Subject(s) - cystic hygroma , polyhydramnios , micropenis , aneuploidy , prenatal diagnosis , amniocentesis , obstetrics , medicine , turner syndrome , trisomy , gestation , pregnancy , gynecology , chorionic villi , klinefelter syndrome , fetus , pediatrics , chromosome , biology , surgery , genetics , gene , hypospadias
The 49,XXXXY syndrome is a rare sex chromosome anomaly with an approximate incidence of 1 in 85 000 male live births. The diagnosis is usually ascertained postnatally by the association of mental retardation, variable growth deficiency, Down syndrome‐like facial dysmorphy, hypogenitalism and other malformations, especially involving the heart and skeleton. Prenatal diagnosis of the pentasomy 49,XXXXY is generally fortuitous and sonographic features have rarely been described in the literature. We report here on two cases of 49,XXXXY syndrome diagnosed prenatally because of sonographic abnormalities. In the first, amniocentesis was performed at 26 weeks' gestation for polyhydramnios, unilateral clubfoot and micropenis. In the second, a karyotype was carried out on chorionic villi at 13 weeks' gestation for cystic hygroma. These observations and the six previously reported cases demonstrate that cystic hygroma in first or second trimester of pregnancy may be associated with sex chromosome aneuploidy other than Turner syndrome. Moreover, they emphasize the importance of detailed sonographic examination in the second trimester, as small penis and abnormal posturing of the lower extremities are very suggestive of the 49,XXXXY syndrome. Copyright © 2002 John Wiley & Sons, Ltd.