2009
DOI: 10.1159/000236351
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Pentasomy 49,XXXXY Diagnosed in utero: Case Report and Systematic Review of Antenatal Findings

Abstract: Objectives: 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. Methods: We searched the PubMed electronic database without year and languag… Show more

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Cited by 10 publications
(10 citation statements)
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“…Clubfoot was previously noted in four reports. 5 Micropenis was also previously reported. 5 These findings are ultimately nonspecific and should trigger further investigation, including invasive diagnostic testing with prenatal chromosome microarray, as in this case.…”
Section: Discussionmentioning
confidence: 61%
See 1 more Smart Citation
“…Clubfoot was previously noted in four reports. 5 Micropenis was also previously reported. 5 These findings are ultimately nonspecific and should trigger further investigation, including invasive diagnostic testing with prenatal chromosome microarray, as in this case.…”
Section: Discussionmentioning
confidence: 61%
“…However, reported prenatal features described in the literature include cystic hygroma, microgenitalia, clubfoot, epignathus, nonimmune hydrops, and hypoplastic right heart syndrome. 5 Confirmatory prenatal diagnosis relies on amniocentesis and fetal chromosomal studies.…”
mentioning
confidence: 99%
“…We recommend that patients receive counseling on the utility of prenatal diagnosis in the setting of abnormal cfDNA screening results for sex chromosome trisomies. This should be emphasized in cases with ultrasound findings including but not limited to ambiguous genitalia, penile hypoplasia, abnormal posturing of the lower extremities, radioulnar synostosis, cystic hygroma, and even nonimmune hydrops fetalis, as such findings have been previously described with sex chromosome tetrasomy and pentasomy conditions . However, a lack of associated ultrasound findings or major dysmorphic features does not altogether eliminate the concerns for an underlying sex chromosome aneuploidy.…”
Section: Introductionmentioning
confidence: 99%
“…Reports of the prenatal presentation of 49,XXXXY are scarce. Prior literature describes cystic hygroma and clubfoot as the most commonly encountered ultrasound abnormalities, when sonographic features are present . Of note, the majority of sex chromosome aneuploidies (SCAs) do not present with anomalies or genital discordance on ultrasound.…”
Section: Introductionmentioning
confidence: 99%