Tetrasomy and pentasomy of the X chromosome

Schoubben, Edith; Decaestecker, Karin; Quaegebeur, Koen; Danneels, Lode; Cornette, Luc

doi:10.1007/s00431-011-1491-9

Cited by 16 publications

(5 citation statements)

References 4 publications

(3 reference statements)

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“…The clinical examination of our patient both prenatally and postnatally adds further to the phenotype in individuals with penta X syndrome. Previous findings could be confirmed, and new findings, such as the dilated intestines and the short femora found prenatally as well as the shrill animal‐like cry, short lower limbs, hypoplasia of the corpus callosum, and subependymal pseudocysts found postnatally, are suggested to be part of the phenotype in penta X syndrome .…”

Section: Discussionmentioning

confidence: 70%

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2

Markholt

Graakjær

Thim

et al. 2017

Clinical Case Reports

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Section: Discussionmentioning

confidence: 70%

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2

Markholt

Graakjær

Thim

et al. 2017

Clinical Case Reports

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“…Three of those children developed congestive heart failure within the first year of life and required surgical ligation of the ductus. A karyotype is therefore mandatory in female newborns with moderate-to-severe hypotonia (including our case), in order to exclude polyploid mosaicism of the X chromosome [ 17 ]. Genetic counseling is indicated during subsequent pregnancies.…”

Section: Discussionmentioning

confidence: 99%

Report of a New Case With Pentasomy X and Novel Clinical Findings

Demırhan

Tanrıverdi

Yılmaz

et al. 2015

Balkan Journal of Medical Genetics

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Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease. A conventional cytogenetic technique was applied for the diagnosis of the polysomy X, and quantitative fluorescent polymerase chain reaction (QF-PCR) using 11 inherited short tandem repeat (STR) alleles specific to the chromosome X for the determination of parental origin of X chromosomes. A cytogenetic evaluation revealed that the karyotype of the infant was 49,XXXXX. Comparison of the infant’s features with previously reported cases indicated a clinically recognizable specific pattern of malformations referred to as the pentasomy X syndrome. However, to the best of our know-ledge, this is the first report of thenar atrophy in a patient with 49,XXXXX. The molecular analysis suggested that four X chromosomes of the infant originated from the mother as a result of the non disjunction events in meiosis I and meiosis II. We here state that the clinical manifestations seen in our case were consistent with those described previously in patients with pentasomy X. The degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions.

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“…Chromosomal aberrations are a frequent cause of mental disability, accounting for 15% of all cases ( 1 , 2 ). Diagnosis of chromosomal forms of mental disability is based on a complex of indicators obtained through clinical and cytogenetic examination ( 3 ).…”

Section: Introductionmentioning

confidence: 99%

A 12-year Life History of a Girl with Profound Intellectual Disability and Leukoencephalopathy: A Rare Clinical Presentation of X Chromosome Pentasomy

Izbasarova,

Zholdybayeva,

Kadrzhanova

et al. 2024

MJIRI

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This paper presents a unique 12-year case analysis of a girl with Penta-X syndrome, a chromosomal abnormality characterized by five X chromosomes instead of the normal two in healthy women. Pentasomy of X is a genetic, but not a hereditary disease affecting only women. Our patient demonstrated delayed mental, speech, and motor development along with physical anomalies such as craniofacial deformities, and eye pathology and was diagnosed with pentasomy of the X chromosome at the age of 3 after a cytogenetic examination. She developed epileptic seizures at the age of nine. Magnetic resonance imaging(MRI) revealed leukoencephalopathy with ventriculomegaly. The peculiarity of this observation is that the polysomy 49, XXXXX detected in the patient is characterized by a typical phenotypic presentation combined with demyelinating leukoencephalopathy, which has not been a typical feature of the disorder.

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Tetrasomy and pentasomy of the X chromosome

Cited by 16 publications

References 4 publications

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2

Report of a New Case With Pentasomy X and Novel Clinical Findings

A 12-year Life History of a Girl with Profound Intellectual Disability and Leukoencephalopathy: A Rare Clinical Presentation of X Chromosome Pentasomy

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