Prenatal diagnosis and genetic analysis of X chromosome polysomy 49,XXXXY

Abstract

We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a 49,XXXXY fetus. A 31‐year‐old, primigravida woman was referred for genetic counselling at 17 weeks' gestation with the sonographic findings of intrauterine growth retardation, generalized oedema, a large septated cystic hygroma colli measuring 5×4 cm, and abnormal posturing of the lower extremities. Quantitative fluorescent polymerase chain reaction (QF‐PCR) with small tandem repeat (STR) markers specific for chromosome X and a pentanucleotide marker X22 for the Xq/Yq pseudoautosomal region PAR2 rapidly detected the X‐chromosome polysomy from amniotic fluid cells. This abnormality appeared to arise from successive non‐disjunction during maternal meiosis I and meiosis II. Cytogenetic analysis revealed a karyotype of 49,XXXXY. Our case shows that a 49,XXXXY fetus in the second trimester may demonstrate hydrops fetalis and a large septated cystic hygroma colli by prenatal ultrasound. Our case also shows 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 cystic hygroma. Copyright © 2000 John Wiley & Sons, Ltd.

Sudden Onset, Rapidly Expansile, Cervical Cystic Hygroma in an Adult: A Rare Case with Unusual Presentation and Extensive Review of the Literature

“…Isolated cystic hygromas can be inherited as an autosomal recessive pattern for which parents are “silent” carriers [39–43]. …”

“…Complications of resection include infection, bleeding, hematoma, and postoperative seromas. Injury to facial, hypoglossal, glossopharyngeal, recurrent laryngeal, and lingual nerves has been reported [34, 39, 54]. Radiotherapy, sclerotherapy, electrocoagulation, cryotherapy, and laser therapy have been recommended as primary or adjunctive treatment for extensive and diffuse malformation.…”

XXXXY Syndrome

“…2. Resulting from successive nondisjunctions in maternal meiosis I and II, fertilized by a normal Y sperm (Deng et al 1991;Villamar et al 1989;Chen et al 2000;Etemadi et al 2015). 3.…”

Prenatal detection of a de novo Yqh-acrocentric translocation

“…QF-PCR was performed by multiplexing 5 STR (small tandem repeat) markers for chromosome 21 (D21S1411, D21S1412, D21S1413, D21S1414, and D21S1280) and 4 markers for sex chromosomes [5]. The markers from chromosome X and Y were: AMEL, a non-polymorphic marker from the amelogenin gene locus; X22, a highly polymorphic pentanucleotide marker for X/Y chromosomes that maps on the Xq/Yq PAR2 region; DXS8377; and a polymorphic DNA repeating sequence of XHPRT (hypoxanthine-guanine phosphoribosyltransferase) present on Xq [6][7][8]. Multiplex QF-PCR amplification was performed in a total volume of 10 μL reaction volume containing genomic DNA, 0.2 mM dNTPs (Amersham, USA), 1× buffer (with 6 mM MgCl 2 ), 1 unit Taq polymerase (Roche, Diagnostic GmbH, Germany), 0.3-2.5 pmol 5′ fluorescent labeled primers (Applied Biosystem, USA), and 3′ non-fluorescent primers.…”