Recurrent triploidy of maternal origin

Brancati, Francesco; Mingarelli, Rita; Dallapiccola, Bruno

doi:10.1038/sj.ejhg.5201076

Cited by 30 publications

(23 citation statements)

References 9 publications

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“…Its occurrence is not associated with an increase in maternal age, but whenever the additional chromosome complement is of paternal origin, the placenta exhibits histological characteristics of a partial hydatidiform mole (Brancati et al, 2003). In fact, in one of the cases with triploid karyotype, in which the anatomic-pathological study showed hydropic degeneration of the villi, we were able to demonstrate the paternal origin of the additional chromosome complement (data not shown).…”

Section: Discussionmentioning

confidence: 75%

Array-CGH testing in spontaneous abortions with normal karyotypes

Borovik

Pérez²,

Silva

et al. 2008

Genet. Mol. Biol.

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In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short-and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89%) specimens. Subsequent, array-CGH based on large insert clones spaced at 1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51% cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further~10% of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.

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Section: Discussionmentioning

confidence: 75%

Array-CGH testing in spontaneous abortions with normal karyotypes

Borovik

Pérez²,

Silva

et al. 2008

Genet. Mol. Biol.

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“…Maternal NLPR7 mutations were also involved in a few cases of diandric triploidies including 1 case of recurrent triploidy [Slim et al, 2011]. Recurrent digynic triploidy is more infrequent; to our knowledge, it has been reported in 5 cases [Pergament et al, 2000;BarAmi et al 2003;Brancati et al, 2003;Huang et al, 2004;Filges et al, 2015], although not in all triploid pregnancies a molecular investigation was performed. We are not aware of other cases with combination of a digynic triploidy and a zygotic tetraploidy with a PPMM contribution.…”

Section: Resultsmentioning

confidence: 76%

A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy

Soler

Badenas²,

Margarit³

et al. 2016

Cytogenet Genome Res

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The patient was referred for prenatal diagnosis due to the sonographic finding of a polymalformed male fetus, and an amniocentesis was performed before termination of pregnancy. The pathological study of the placenta did not show morphological alterations. In her next pregnancy, sonographic examination disclosed a missed abortion with a visible embryo, and a chorionic villi sample was obtained for cytogenetic analysis before evacuation. Macroscopic examination of the villi sample did not reveal molar vesicular appearance. QF-PCR and cytogenetic analyses were performed on amniotic fluid (first pregnancy) and chorionic villi samples (second pregnancy). A 69,XXY and 92,XXXY karyotype was found, respectively. QF-PCR results disclosed 2 maternal and 1 paternal alleles in the first pregnancy (digynic triploidy), and double maternal and double paternal contribution to the tetraploid pregnancy. Among the few reported cases of 92,XXXY tetraploidy, those associated with partial moles show a PPPM genotype (3 paternal and 1 maternal alleles), and the only case with a PPMM genotype was found in a spontaneously aborted fetus similar to our case. We are not aware of other cases with combination of a digynic triploid pregnancy and a tetraploid pregnancy with a PPMM contribution. Our case adds evidence to the influence of the balance between paternal and maternal genomic doses on the phenotype.

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“…In this case, the phenotype is characterized by slight IUGR, and hypertrophic cystic placenta with partial hydatiform mola. The maternal triploidy is the result of digyny (fertilisation of a diploid oocyte by a normal sperm cell) and is characterized by severe asymmetric IUGR, with macrocephaly associated with hypoplasia of the other corporeal segments (4,(12)(13)(14)(15)(16). Other anomalies are common to the two forms of triploidy: anomalies of fingers (oligodactily and syndactily of fingers III and IV) different non-pathognomonic heart anomalies, genitourinary defects, lung anomalies and a non-specific facial dysmorphism (4,(12)(13)(14)(15)(16)(17).…”

Section: Discussionmentioning

confidence: 99%