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Prenatal sonographic diagnosis of the 49,XXXXY syndrome.

Abstract

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.

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  • Authors+Show Affiliations

    ,

    Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, France.

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    Source

    Prenatal diagnosis 22:13 2002 Dec pg 1177-80

    MeSH

    Abnormalities, Multiple
    Abortion, Eugenic
    Adult
    Amniocentesis
    Aneuploidy
    Chromosomes, Human, X
    Female
    Genetic Counseling
    Gestational Age
    Humans
    Pregnancy
    Sex Chromosome Aberrations
    Sex Chromosome Disorders
    Ultrasonography, Prenatal

    Pub Type(s)

    Case Reports
    Journal Article
    Review

    Language

    eng

    PubMed ID

    12478628

    Citation

    Schluth, Caroline, et al. "Prenatal Sonographic Diagnosis of the 49,XXXXY Syndrome." Prenatal Diagnosis, vol. 22, no. 13, 2002, pp. 1177-80.
    Schluth C, Doray B, Girard-Lemaire F, et al. Prenatal sonographic diagnosis of the 49,XXXXY syndrome. Prenat Diagn. 2002;22(13):1177-80.
    Schluth, C., Doray, B., Girard-Lemaire, F., Kohler, M., Langer, B., Gasser, B., ... Flori, E. (2002). Prenatal sonographic diagnosis of the 49,XXXXY syndrome. Prenatal Diagnosis, 22(13), pp. 1177-80.
    Schluth C, et al. Prenatal Sonographic Diagnosis of the 49,XXXXY Syndrome. Prenat Diagn. 2002;22(13):1177-80. PubMed PMID: 12478628.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Prenatal sonographic diagnosis of the 49,XXXXY syndrome. AU - Schluth,Caroline, AU - Doray,Bérénice, AU - Girard-Lemaire,Françoise, AU - Kohler,Monique, AU - Langer,Bruno, AU - Gasser,Bernard, AU - Lindner,Véronique, AU - Flori,Elisabeth, PY - 2002/12/13/pubmed PY - 2003/6/5/medline PY - 2002/12/13/entrez SP - 1177 EP - 80 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 22 IS - 13 N2 - 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. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/12478628/Prenatal_sonographic_diagnosis_of_the_49XXXXY_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0197-3851&date=2002&volume=22&issue=13&spage=1177 DB - PRIME DP - Unbound Medicine ER -