Pentasomy 49,XXXXY Diagnosed in utero: Case Report and Systematic Review of Antenatal Findings | Zendy

Panagiotis Peitsidis | Zendy; Emmanouil Manolakos | Zendy; Α. Πεϊτσίδου | Zendy; Michael B. Petersen | Zendy; Panagiota Tsoplou | Zendy; Rezan A. Kadir | Zendy; E. Agapitos | Zendy

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Pentasomy 49,XXXXY Diagnosed in utero: Case Report and Systematic Review of Antenatal Findings

Author(s) -

Panagiotis Peitsidis,

Emmanouil Manolakos,

Α. Πεϊτσίδου,

Michael B. Petersen,

Panagiota Tsoplou,

Rezan A. Kadir,

E. Agapitos

Publication year - 2009

Publication title -

fetal diagnosis and therapy

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.976

H-Index - 60

eISSN - 1421-9964

pISSN - 1015-3837

DOI - 10.1159/000236351

Subject(s) - cystic hygroma , medicine , prenatal diagnosis , amniocentesis , obstetrics , single umbilical artery , trisomy , pregnancy , genetic counseling , pediatrics , gestation , gynecology , fetus , genetics , biology

Pentasomy 49,XXXXY is a rare sex chromosome polysomy usually diagnosed postnatally by the combina- tion of mental retardation, facial dysmorphism, and genital, cardiac and skeletal malformations. Prenatal detection of 49,XXXXY is unusual and may be incidental due to non-specific ultrasound (US) findings. We report a case of 49,XXXXY diagnosed prenatally and present a literature review of the few prenatally diagnosed cases.

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