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      A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literature

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          Abstract

          Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed at 17 weeks showed a female 49, XXXXX karyotype. The ultrasonographic examination revealed nonspecific signs of a mild early fetal growth retardation and no significant increased nuchal fold. The fetal autopsy and the X-ray excluded major malformations. Prenatal diagnosis is often difficult due to the lack of indicative ultrasonographic findings and the rarity of described cases. The influence of the mother's age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT) that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs.

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          Most cited references44

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          SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy.

          This study aimed to develop a single-nucleotide polymorphism-based and informatics-based non-invasive prenatal test that detects sex chromosome aneuploidies early in pregnancy. Sixteen aneuploid samples, including thirteen 45,X, two 47,XXY, and one 47,XYY, along with 185 euploid controls, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex polymerase chain reaction assay that targeted 19,488 polymorphic loci covering chromosomes 13, 18, 21, X, and Y, and sequenced. Sequencing results were analyzed using a Bayesian-based maximum likelihood statistical method to determine copy number of interrogated chromosomes, calculating sample-specific accuracies. Of the samples that passed a stringent quality control metric (93%), the algorithm correctly identified copy number at all five chromosomes in all but one of the 187 samples, for 934/935 correct calls as early as 9.4 weeks of gestation. We detected 45,X with 91.7% sensitivity (CI: 61.5-99.8%) and 100% specificity (CI: 97.9-100%), and 47,XXY and 47,XYY. The average calculated accuracy was 99.78%. This method non-invasively detected 45,X, 47,XXY, and 47,XYY fetuses from cell-free DNA isolated from maternal plasma with high calculated accuracies and thus offers a non-invasive method with the potential to function as a routine screen allowing for early prenatal detection of rarely diagnosed yet commonly occurring sex aneuploidies. © 2013 John Wiley & Sons, Ltd.
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            Sex chromosome tetrasomy and pentasomy.

            Sex chromosome abnormalities occur in at least 1 in 400 births and include the well-described 47,XXX, 47,XXY, 47,XYY, and 45,X karyotypes. The addition of more than one extra X or Y chromosome occurs rarely, and little information is available in the medical literature. Individual case reports make up most of this body of knowledge, and all are based on subjects who identified themselves postnatally. Many were ascertained through screenings of institutions and hospitals; thus, there is no unbiased information on the natural history of poly X and Y karyotypes. A direct relationship between the number of additional sex chromosomes and the severity of the phenotype is generally assumed. The purpose of this article is to summarize what is known about these conditions and to present 10 additional cases. The karyotypes include, 48,XXXX, 49,XXXXX, 48,XXYY, 48,XXXY, 49,XXXXY, 49,XXXYY, 48,XYYY, 49,XYYYY, and 49,XXYYY.
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              A case of 49,XXXXX in which the extra X chromosomes were maternal in origin.

              This report describes an 11 month old female baby with features of pentasomy X. A molecular and cytogenetic evaluation revealed that her karyotype was 49,XXXXX and her extra X chromosomes were of maternal origin. She has muscular hypotonia, mental retardation, a cleft palate, mild hydrocephalus as a result of dilatation of both lateral ventricles, hyperextensible elbow joints, proximal radioulnar synostosis, clinodactyly of the fifth finger, valgus of the feet, and small hands and feet. In addition, she has a persistent pupillary membrane and congenital chorioretinal atrophy. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non-dysjunctions.
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                Author and article information

                Journal
                Case Rep Obstet Gynecol
                Case Rep Obstet Gynecol
                CRIOG
                Case Reports in Obstetrics and Gynecology
                Hindawi Publishing Corporation
                2090-6684
                2090-6692
                2015
                29 January 2015
                : 2015
                : 935202
                Affiliations
                1Section of Gynecology and Obstetrics, Academic Department of Biomedicine and Prevention and Clinical Department of Surgery, Tor Vergata University Hospital, Viale Oxford 81, 00133 Rome, Italy
                2Laboratory of Medical Genetics, Polyclinic of Tor Vergata Foundation, Viale Oxford 81, 00133 Rome, Italy
                3Laboratory of Medical Genetics, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
                4Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
                Author notes
                *Linda Maria Azzurra Pirollo: lindapirollo@ 123456gmail.com

                Academic Editor: Olivier Picone

                Article
                10.1155/2015/935202
                4325205
                e08881d0-b138-416e-9a2a-2cb27554308b
                Copyright © 2015 Linda Maria Azzurra Pirollo et al.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 2 December 2014
                : 13 January 2015
                : 14 January 2015
                Categories
                Case Report

                Obstetrics & Gynecology
                Obstetrics & Gynecology

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