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

  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},
  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
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
Early prenatal diagnosis of 49,XXXXY: two case reports
Two additional sporadic cases of prenatal 49,XXXXY syndrome are presented, diagnosed prenatally in the first trimester. Expand
False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY
A patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS) is described and the importance of thorough pre- and posttest counseling for NIPS is reported. Expand
Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome.
Microsatellite analysis showed two different X chromosomes each present in two copies, supporting that the four X chromosomes had arisen from a nondisjunction in maternal meiosis I followed by a second nondisJunction involving both X chromosomes in meiosis II. Expand
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.
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
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
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
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


Prenatal sonographic diagnosis of the 49,XXXXY syndrome
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
Prenatal Diagnosis of an Epignathus Associated with a 49,XXXXY Karyotype – A Case Report
Prenatal diagnosis by ultrasound has improved perinatal management and should include assessment of the tumor size and spread in order to establish an accurate prognosis and to anticipate likely problems which are to be encountered during pregnancy or at the time of delivery. Expand
Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation
A case diagnosed prenatally by chorionic villus sampling after the ultrasound detection of cystic hygroma at 16 weeks' gestation, one of the rarest sex chromosome defects, is presented. Expand
Normal testicular histology in a mid‐trimester 49,XXXXY fetus
The development of the fetal organs revealed normal, immature histological architecture, and histological and morphometric studies of both testes were normal and most comparable with the testicular histology in normal male fetuses of the same gestational age. Expand
Prenatal diagnosis and genetic analysis of X chromosome polysomy 49,XXXXY
It is shown that a 49,XXXXY fetus in the second trimester may demonstrate hydrops fetalis and a large septated cystic hygroma colli by prenatal ultrasound and that QF‐PCR assays with sex chromosome specific STR markers provide rapid prenatal diagnosis of numerical sex chromosome aneuploidy as well as its genetic cause in fetal cystichygroma. Expand
[Prenatal outcome of sex chromosome anomalies diagnosed during pregnancy: a retrospective study of 47 cases].
It would appear that the development of consensual guidelines in pluridisciplinary fetal medicine centers can help reduce the disparities currently observed among French centers in the management of fetuses with sex chromosome anomalies. Expand
Fetal gonadal histology in XXXXY, XYY and XXX syndromes
During a 3‐year period in which 1500 amniotic fluid samples were studied, six cases of sex chromosome abnormality were detected antenatally: two with XXX, three with XYY and one with XXXXY sex chromosome constitution; the parents in each case chose termination of the pregnancy. Expand
XXXXY : a distinct phenotype . Three new cases and review
Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority ofreported cases have notExpand
49,XXXXY: a distinct phenotype. Three new cases and review.
The 49,XXXXY syndrome is delineated as separate from Klinefelter syndrome, and the prevalence of congenital heart defects is emphasised. Expand
X-chromosome polysomy in the male
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