Trisomy 12 mosaicism detected by mid–trimester amniocentesis

Petrella, Rena; Hirschhorn, Kurt

doi:10.1002/pd.1970101204

Cited by 14 publications

(7 citation statements)

References 14 publications

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“…At least six other cases of trisomy 12 detected prenatally led to therapeutic abortion [Jensen et al, 1984;Petrella and Hirshorn, 1990;Wyandt et al, 1990;Park et al, 1991;Cartolano et al, 1993;Bischoff et al, 1995]. It is difficult to draw conclusions about the phenotype of trisomy 12 mosaicism from these, as five of the six had no major malformations (only about half were autopsied) and most were associated with lowlevel mosaicism.…”

Section: Discussionmentioning

confidence: 95%

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

et al. 2000

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This patient, in whom trisomy 12 mosaicism was confirmed in multiple organs, is the fifth case diagnosed postnatally and the first reported for whom a meiotic origin of the trisomy, maternal meiosis I, was determined. Mosaic aneuploidy was suspected because of pigmentary dysplasia, a frequent but non-specific finding in chromosomal mosaicism. The severe phenotype of this child, who died in infancy with a complex heart malformation, was probably a result of the high percentage of trisomic cells. Cytogenetic and interphase fluorescent in situ hybridization analyses showed a highly variable distribution of aneuploid cells in the nine tissues studied, from none in blood and ovary to 100% in spleen and liver. The trisomy arose meiotically with apparent post-zygotic loss of one of the chromosomes 12; uniparental disomy for this chromosome in the diploid cell line was excluded. The phenotype of the cases reported in living or liveborn individuals has been extremely variable, ranging from the present case, in which the child died in infancy with multiple malformations and pigmentary dysplasia, to a fortuitous finding in an adult studied for infertility. The variation in severity is probably determined by the proportion and distribution of the trisomic cells, which is linked to the timing of the non-disjunctional error.

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Section: Discussionmentioning

confidence: 95%

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

et al. 2000

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“…In seven cases, the fetus appeared phenotypically normal. In the five of those seven where placental and fetal tissues were karyotyped, all showed trisomy 12 cells in at least one tissue studied (Jensen et al, 1984;Wyandt et al, 1990;Petrella and Hirshborn, 1990;Park et al, 1991;Cartolano et al, 1993). In one fetus, only fetal blood was studied and no trisomic cells were found (Park et al, 1991).…”

Section: Discussionmentioning

confidence: 99%

Trisomy 12/Monosomy X/Normal Female Mosaicism: Prenatal Detection and Confirmation in a Liveborn

et al. 1996

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We report a case of mosaicism for three cell lines: 45,X, 46,XX, and 47,XX,+12, diagnosed prenatally by amniocentesis done for advanced maternal age. Cord blood from the baby showed mosaicism for 45,X and 46,XX; cultures derived from multiple placental sites, villi, cord, membrane, and skin had varying proportions of all three cell lines. The patient at 18 months of age has mild physical dysmorphisms, hypotonia, delay in gross motor development, and age‐appropriate cognitive development. The literature reveals variable outcomes for individuals with either mosaic trisomy 12 or mosaic Turner syndrome. Parental origin of the chromosome involved in a proposed corrected trisomy and/or the percentage of cell types in affected organs might account for the variability in outcomes seen.

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“…Among the reported cases in live-born children, mosaic trisomy 12 was not consistently detected in peripheral blood lymphocytes or skin fibroblasts, although it was detected prenatally in these cell types following amniocentesis [Wyandt et al, 1990;Petrella and Hirschhorn, 1990;Fröhlich and Falk, 1991;Meck et al, 1994]. However, trisomy 12 mosaicism has been frequently detected in chorionic villus samples but was specifically confined to the placenta in these cases [Mikkelsen, 1987;Kalousek, 1990].…”

Section: Mosaic Trisomy 12 Associated With Overgrowth Detected In Fibmentioning

confidence: 95%

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

Gasparini¹,

Montenegro²,

Novo-Filho³

et al. 2019

Cytogenet Genome Res

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Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly, cutaneous spots, facial asymmetry, prominent ears, hypotonia, retinopathy, and sensorineural hearing loss. A 2-year-old female presented with neuropsychomotor developmental delay, prominent forehead, dolichocephaly, patchy skin pigmentation, and unexpected overgrowth at birth. Cytogenetic analysis of her peripheral blood showed normal results, suggesting the presence of a chromosomal alteration in other tissues. Further studies using G-banding and FISH performed on fibroblasts from both hyper- and hypopigmented regions identified a 47,XX,+12/46,XX karyotype. To the best of our knowledge, no patients with mosaic trisomy 12 associated with overgrowth have been reported to date. Congenital overgrowth and neonatal overgrowth have been frequently linked to Pallister-Killian syndrome (PKS; OMIM 601803). This case suggests the possibility of an association of genes present in the 12p region with fetal overgrowth, considering that chromosomal duplications could lead to an increase in the production of aberrant transcripts and disturbing gene dosage effects. This case highlights the importance of cytogenetic analysis in different tissues to provide relevant information to the specific genotype/phenotype correlation.

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Trisomy 12 mosaicism detected by mid–trimester amniocentesis

Cited by 14 publications

References 14 publications

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

Trisomy 12/Monosomy X/Normal Female Mosaicism: Prenatal Detection and Confirmation in a Liveborn

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

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