Triploid/diploid mosaicism (69XXY/46XX) presenting as severe early onset preeclampsia with a live birth: placental and cytogenetic features

Vatish, Manu; Sebire, Neil J.; Allgood, Catherine; McKeown, Carole; Rees, Helen C.; Keay, Stephen D.

doi:10.1016/s0301-2115(03)00335-x

Cited by 4 publications

(3 citation statements)

References 5 publications

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“…Given the proven association of imprinting with pre-eclampsia in heterozygous Cdkn1c mice (Kanayama et al, 2002), the fact that imprinting predominantly operates in developing tissues (i.e. embryo and placenta) and the reported clinical associations between preeclampsia and parent-of-origin effects (Schinzel et al, 1975;Sebire et al, 2001;Billieux et al, 2004;Vatish et al, 2004), we explored the presence of maternally expressed imprinted genes on 10q22 that function in the early placenta. For this, a novel combinatorial approach was used with complementary use of structural and functional genomics.…”

Section: Chromosome 10q22 Contains Two Regions Enriched For Genes Witmentioning

confidence: 99%

The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas

Oudejans¹,

Mulders²,

Lachmeijer³

et al. 2004

MHR: Basic Science of Reproductive Medicine

101

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By affected sib-pair linkage analysis of 24 families with pre-eclampsia, we confirm a susceptibility locus on chromosome 10q22.1 in Dutch females: a multipoint non-parametric linkage score of 3.6 near marker D10S1432 was obtained. Haplotype analysis showed a parent-of-origin effect: maximal allele sharing in the affected sibs was found for maternally derived alleles in all families, but not for the paternally derived alleles. As matrilineal inheritance suggests the presence of maternally expressed imprinted genes, while imprinting operates predominantly in (extra)embryonic tissues, all genes (n=132) known on 10q22 between GATA121A08 and D10S580 were screened for seven sequence-related features associated with imprinting and subsequently tested for expression in first trimester placenta. Placental expression of genes selected in this way (n=55) was compared with expression in androgenetic placentas of identical gestational age. Two regions on 10q22 were identified with developmentally co-repressed genes with non-random chromosomal distribution. Interestingly, these two clusters, near CTNNA3 and KCNMA1 and each containing five genes with down-regulated expression in androgenetic placentas, coincided with the regions with maximal maternal allele sharing seen in the pre-eclamptic sisters. Our linkage and expression data are compatible with the concept that pre-eclampsia involves maternally expressed imprinted genes that operate in the first trimester placenta.

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Section: Chromosome 10q22 Contains Two Regions Enriched For Genes Witmentioning

confidence: 99%

The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas

Oudejans¹,

Mulders²,

Lachmeijer³

et al. 2004

MHR: Basic Science of Reproductive Medicine

101

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“…We found three cases reporting DTM diagnosis on karyotyping of peripheral blood sample, all of which had different clinical features and outcomes. For each of these cases, at least 30% of the cells displayed triploidy, demonstrating that the percentage of triploid cells likely impacts the likelihood of diagnosis through peripheral blood testing 9–11…”

Section: Discussionmentioning

confidence: 99%

Use of tissue samples in diagnosing diploid triploid mosaicism

Mahon

Fox²,

Lynch³

et al. 2022

BMJ Case Rep

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Diploid triploid mosaicism (DTM) is a rare genetic condition where there is an extra haploid set of chromosomes in mosaic form. We describe an infant for whom DTM was detected antenatally through amniocentesis. Prenatal counselling suggested a guarded prognosis. The infant’s phenotypic presentation and postnatal course reflect the varied presentation and prognosis associated with DTM. We highlight potential challenges in diagnosing DTM postnatally, with many having normal blood karyotype with 46 chromosomes.

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“…Failure to thrive, eye abnormalities, body asymmetry, truncal obesity, syndactyly of fingers, arachnodactyly, joint contractures, endocrine problems, pigment anomalies, seizures and multiple congenital anomalies may also be present (Veenema et al, 1982;Wilson et al, 1988;Wullich et al, 1991;Wulfsberg et al 1991;Edwards et al, 1994;Vatish et al, 2004). Only a few patients with complete triploidy or tetraploidy have been reported and mosaic forms are more frequent.…”

Section: Discussionmentioning

confidence: 99%

Transient progeroid phenotype and lipodystrophy in mosaic polyploidy

Kárteszi

Kosztolányi

Czakó

et al. 2006

Clinical Dysmorphology

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Wiedemann-Rautenstrauch syndrome is a rare disorder with a progressive course and early lethality. Severe mental and growth retardation, muscle hypotonia, a progeroid face, wrinkled skin, relative macrocephaly with late closure of the anterior fontanel, arachnodactyly and congenital heart defects are also typical. We report on a female infant with all the characteristic features of this syndrome after birth. Chromosomal studies on peripheral leukocytes showed a normal karyotype. In view of an abnormal lipid distribution and lipodystrophy, metabolic studies for congenital disorders of glycosylation have been performed with normal results. At the age of 2 years 6 months the progeroid signs were no longer present, and the patient had a striking improvement in her psychomotor development. As there are overlapping features in Wiedemann-Rautenstrauch syndrome and in mosaic polyploidy, including psychomotor retardation, reduced peripheral muscle bulk, arachnodactyly and lipodystrophy, chromosome analysis was performed in the fibroblast culture of our patient. A mosaic triploidy/tetraploidy was detected in 60% and 14% of the cells, respectively. We therefore recommend chromosome analysis of fibroblasts from patients with a neonatal presentation of progeroid features and lipodystrophy.

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Triploid/diploid mosaicism (69XXY/46XX) presenting as severe early onset preeclampsia with a live birth: placental and cytogenetic features

Cited by 4 publications

References 5 publications

The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas

The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas

Use of tissue samples in diagnosing diploid triploid mosaicism

Transient progeroid phenotype and lipodystrophy in mosaic polyploidy

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