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

@article{Peitsidis2009Pentasomy4D,
  title={Pentasomy 49,XXXXY Diagnosed in utero: Case Report and Systematic Review of Antenatal Findings},
  author={Panagiotis Peitsidis and Emmanouil Manolakos and Aikaterini Peitsidou and M.B. Petersen and Panagiota Tsoplou and Rezan A Kadir and Emmanouil B. Agapitos},
  journal={Fetal Diagnosis and Therapy},
  year={2009},
  volume={26},
  pages={1 - 5}
}
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… Expand
Prenatal presentation of 49,XXXXY syndrome
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The prenatal phenotype and genetic evaluation of 2 cases of 49,XXXXY syndrome managed at the authors' institution are presented and potential etiologies of the ultrasound findings were reviewed and options for further testing were discussed. Expand
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Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome.
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Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.
TLDR
This work shows the evolving clinical and facial phenotype of eight boys and men with 49,XXXXY, demonstrating an increasingly perceptible distinct facial gestalt over time and the multidisciplinary support can be optimized und unnecessary diagnostics avoided. Expand
49, XXXXY syndrome: an Italian child
TLDR
A new case of 49, XXXXY syndrome is reported; the first Italian case to the authors' knowledge and shows some peculiar clinical features, such as mental retardation, facial dysmorphism, ambiguous genitalia, and multiple skeletal and cardiac defects. Expand
Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
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The testosterone replacement treatment of a 19-year-old boy, presenting several congenital malformations, mental retardation, recurrent respiratory infections during growth and delayed puberty, induced positive effects on the development of the reproductive system and regulation of the metabolic profile. Expand
Close but not quite: Two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening
TLDR
This research presents a novel approach to maternal Fetal Medicine and Obstetrics called “Smart Pregnant Women’s Health,” which aims to provide real-time information about when and how to expect and care for pregnant women and their fetuses. Expand

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TLDR
It is demonstrated that cystic hygroma in first or second trimester of pregnancy may be associated with sex chromosome aneuploidy other than Turner syndrome, as small penis and abnormal posturing of the lower extremities are very suggestive of the 49,XXXXY syndrome. Expand
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In 25 patients with other X-chromosome polysomies (2 n≥48 chromosomes) genotype/phenotype correlation is reviewed, especially for the patients with 48,XXYY and 49,XXXXY karyotypes. Expand
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