Clinical features of trisomy 12 mosaicism—Report and review

Hong, Bo; Zunich, Janice; Openshaw, Amanda; Toydemir, Reha M.

doi:10.1002/ajmg.a.38194

Cited by 16 publications

(24 citation statements)

References 24 publications

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“…Only 11 patients with postnatally diagnosed trisomy 12 mosaicism have been reported (Al‐Hertani et al, ; Aughton et al, ; Bischoff et al, ; Boulard et al, ; DeLozier‐Blanchet et al, ; English et al, ; Gasparini et al, ; Hong et al, ; Parasuraman et al, ; Patil et al, ; Richer et al, ). The clinical findings in these patients and the current four patients are summarized in Table .…”

Section: Discussionmentioning

confidence: 99%

“…Patients with trisomy 12 mosaicism diagnosed postnatally are extremely rare. Only a few patients have been reported in the literature (Al‐Hertani, McGowan‐Jordan, & Allanson, ; Aughton, SlSaadi, Harper, & Biesecker, ; Bischoff, Zenger‐Hain, Moses, Van Dyke, & Shaffer, ; Boulard et al, ; DeLozier‐Blanchet et al, ; English, Goodship, Jackson, Lowry, & Wolstenholme, ; Gasparini et al, ; Hong, Zunich, Openshaw, & Toydemir, ; Parasuraman et al, ; Patil, Bosch, & Hanson, ; Richer, Bleau, & Chapdelaine, ). Similarly to those found in prenatally diagnosed patients, the phenotypes of mosaic trisomy 12 patients reported in living or liveborn individuals are variable, ranging from mild developmental delay to MCA and neonatal death.…”

Section: Introductionmentioning

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: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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“…The clinical effects of different levels of mosaicism could be determined by several factors, such as the chromosomes involved, the genes they carry, the origin of the nondisjunction error (meiotic/mitotic), or the proportion and distribution of abnormal cells [Hong et al, 2017].…”

Section: Resultsmentioning

confidence: 99%

“…The clinical phenotype is variable, and the related phenotypic abnormalities include pigmented dysplasia, congenital heart defects, microcephaly, neuropsychomotor developmental delay, facial asymmetry, prominent ears, hypotonicity, retinopathy, and hearing loss. Trisomy of chromosome 12 has been reported as a cytogenetic marker for the prognosis of chronic lymphocytic leukemia (CLL), but it is not possible to establish a predisposition for neoplasms [Anastasi et al, 1992;Hong et al, 2017].…”

Section: Resultsmentioning

confidence: 99%

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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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A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review

Ayala

Dyer

et al. 2021

American J of Med Genetics Pt A

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Trisomy 12 is a rare autosomal aneuploidy. All postnatally diagnosed individuals with trisomy 12 have been mosaic for this chromosome abnormality. We herein report an infant girl presented at 2 weeks of age with severe congenital heart defect, tracheobronchomalacia, and dysmorphic features. All of the dysmorphic features of this patient fit into the known phenotype spectrum of mosaic trisomy 12, although this patient uniquely presented with macrocephaly. Tracheo‐bronchomalacia has been described once previously but had a significant impact on this patient's clinical course. The patient passed away at 2‐month‐old due to cardiac and respiratory complications. Chromosomal single nucleotide polymorphism (SNP) microarray analysis on a peripheral blood sample from the patient revealed trisomy 12 in approximately 50% of cells. Concurrent fluorescence in situ hybridization analysis of uncultured blood cells detected a comparable level of trisomy 12 mosaicism. Compared to conventional cytogenetics, SNP microarray examines all nucleated cells without sampling bias, has an increased power to estimate mosaicism level, and can provide a quick assessment of the underlying mechanism. Here we demonstrate the utilization of SNP microarray in the clinical diagnosis of those once considered rare disorders but might have been missed by conventional cytogenetic techniques.

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Clinical features of trisomy 12 mosaicism—Report and review

Cited by 16 publications

References 24 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

A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review

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