Prenatal diagnosis of trisomy 12 mosaicism: Physical and developmental follow‐up

Meck, Jeanne; Kozma, Chahira; Tchabo, Jean-Gilles; King, Jeffrey C.; Lencki, Shaun G.; Pinckert, Thomas L.

doi:10.1002/pd.1970140919

Cited by 12 publications

(9 citation statements)

References 15 publications

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“…However, one of the disadvantage of array CGH is its inability to : Frohlich & Falk, 1991;[4]: Meck et al, 1994;[5]: Spiro et al, 1996, [6]: Brosens et al, 1996;[7]: Staals et al, 2003;[8]: Chen, Su, et al, 2013, [9]: Chen, Chang, et al, 2013;[10] (Boisseau et al, 2011;Cho, Goh, Lau, Ong, & Lam, 2013;Tamura et al, 2015). Based on these reports, UPD12 does not appear to cause imprinting disorders but unmasks recessive disorders.…”

Section: Resultsmentioning

confidence: 99%

“…In addition, seven of the nine prenatally diagnosed and surviving patients were evaluated in the infantile period. Developmental anomalies can appear at later developmental stage in these patients (Meck et al, ), therefore the developmental status on those patients was unclear.…”

Section: Discussionmentioning

confidence: 99%

“…Eleven patients with mosaic trisomy 12 diagnosed prenatally have also been reported (Brosens, Overton, Lavery, & Thornton, ; Chen et al, ; Chen et al, ; Chen, Chang, Su, Chen, & Wang, ; Chen, Su, et al, ; Frohlich & Falk, ; Leschot, Wilmsen‐Linders, van Geijn, Samsom, & Smit, ; Meck et al, ; Spiro, Rita, Jazmines, Jones, & Booth, ; Staals, Schrander‐Stumpel, Hamers, & Fryns, ; Von Koskull et al, ). Table summarizes the clinical features in those patients.…”

Section: Discussionmentioning

confidence: 99%

“… Note: [1]: Leschot et al, ; [2]: Von Koskull et al, 1989; [3]: Frohlich & Falk, ; [4]: Meck et al, ; [5]: Spiro et al, , [6]: Brosens et al, ; [7]: Staals et al, ; [8]: Chen, Su, et al, , [9]: Chen, Chang, et al, ; [10]: Chen et al, ; [11]: Chen et al, .…”

Section: Discussionmentioning

confidence: 99%

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Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing

Surti

et al. 2020

American J of Med Genetics Pt A

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Children or adults with mosaic trisomy 12 diagnosed postnatally are extremely rare. Only a small number of patients with this mosaicism have been reported in the literature. The clinical manifestation of mosaic trisomy 12 is variable, ranging from mild developmental delay to severe congenital anomaly and neonatal death. The trisomy 12 cells are not usually able to be detected by phytohemagglutinin stimulated peripheral blood chromosome analysis. The variability of phenotypes and the limited number of patients with this anomaly pose a challenge to predict the clinical outcomes. In this study, we present the phenotypes and laboratory findings in four patients and review the 11 previously reported patients with mosaic trisomy 12 diagnosed postnatally, as well as 11 patients with mosaic trisomy 12 diagnosed prenatally. The findings of this study provide useful information for laboratory diagnosis and clinical management of these patients.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing

Surti

et al. 2020

American J of Med Genetics Pt A

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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/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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Prenatal diagnosis of trisomy 12 mosaicism: Physical and developmental follow‐up

Cited by 12 publications

References 15 publications

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

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

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