Anatomy of trisomy 12

Roberts, Wallisa; Żurada, Anna; Żurada-Zielińska, Agnieszka; Gielecki, Jerzy; Loukas, Marios

doi:10.1002/ca.22726

Cited by 13 publications

(12 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…12 The incidence of the syndrome is estimated at five per million live births. 4,13 More than 200 cases have been reported in the literature. 14 No ethnic group is spared, and PKS has been reported in almost every continent.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review

Elsheikh

Shehhi

Goud

et al. 2019

OMJ

View full text Add to dashboard Cite

Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p). The clinical features are highly variable, ranging from mild to severe. Diagnosis is usually missed because of the low level of mosaicism in peripheral lymphocytes. We present a case of an Omani newborn with PKS with severe clinical presentation and multisystem involvement that lead to postnatal death. Karyotype and fluorescent in situ hybridization studies confirmed the presence of chromosome 12p duplication. This is the first case of PKS reported in the literature from Oman and the Arab world.

show abstract

Section: Discussionmentioning

confidence: 99%

“…23,24 These two issues have some serious implications for both the diagnosis and counseling of patients and families. 8,13…”

Section: Discussionmentioning

confidence: 99%

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review

Elsheikh

Shehhi

Goud

et al. 2019

OMJ

View full text Add to dashboard Cite

show abstract

“…It occurs due to a meiotic error followed by trisomy rescue or originates from mitotic nondisjunction. This trisomy can also be observed in live births if the mosaicism does not prevent the physiological function of normal cells [Roberts et al, 2016;Hong et al, 2017].…”

Section: Mosaic Trisomy 12 Associated With Overgrowth Detected In Fibmentioning

confidence: 99%

“…Mosaic trisomy 12 represents a genetic abnormality that is encountered more frequently than expected at a rate of 1 in 500 live births [Roberts et al, 2016]. Only 9 cases (1 male and 8 females) with postnatal diagnosis have been reported in the literature [Patil et al, 1983;Al-Hertani et al, 2012;Chen et al, 2013].…”

Section: Mosaic Trisomy 12 Associated With Overgrowth Detected In Fibmentioning

confidence: 99%

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

Gasparini¹,

Montenegro²,

Novo-Filho³

et al. 2019

Cytogenet Genome Res

View full text Add to dashboard Cite

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.

show abstract

“…Trisomy 12 is a rare chromosomal disorder resulting in spontaneous abortion easily. Partial duplications are associated with diverse clinic phenotypes, ranging from normal phenotypes to severe physical defects in different organ systems [7].…”

Section: Introductionmentioning

confidence: 99%

Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review

Zhang

Liu

et al. 2020

BioMed Research International

View full text Add to dashboard Cite

Chromosomal rearrangements, such as duplications/deletions, can lead to a variety of genetic disorders. Herein, we reported a prenatal case with right aortic arch and aberrant left subclavian artery, consisting of a complex chromosomal copy number variations. Routine cytogenetic analysis described the chromosomal karyotype as 46,XY, add (2)(q37) for the fetus. However, the chromosomal microarray analysis (CMA) identified a 22.4 Mb duplication in chromosome 4p16.3p15.2, a 3.96 Mb microduplication in 12p11.1q11, and a 1.68 Mb microdeletion in Xp22.31. Fluorescence in situ hybridization (FISH) using a chromosome 4 painting probe was found to hybridize to the terminal of chromosome 2q on the fetus, thus confirming that the extra genetic materials of chromosome 2 was actually trisomy 4p detected through CMA. Meanwhile, the parental karyotypes were normal, which proved that the add (2) was de novo for fetus. The duplication of Wolf-Hirschhorn syndrome critical region (WHSCR) and X-linked recessive ichthyosis associated with Xp22.31 deletion separately were considered potentially pathogenic causes although other abnormalities involving these syndromes were not observed. For prenatal cases, the combined utilization of ultrasonography, traditional cytogenetic, and molecular diagnosis technology will enhance better diagnostic benefits, offer more detailed genetic counselling, and assess the prognosis of the fetuses.

show abstract

Anatomy of trisomy 12

Cited by 13 publications

References 11 publications

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review

Contact Info

Product

Resources

About