18p trisomy: A case of direct 18p duplication characterized by molecular cytogenetic analysis

Marical, H.; Bris, M.-J. Le; Douet‐Guilbert, Nathalie; Parent, P.; Descourt, J.P.; Morel, Frédéric; Braekeleer, Marc De

doi:10.1002/ajmg.a.31881

Cited by 23 publications

(24 citation statements)

References 14 publications

(20 reference statements)

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“…1) A review of the literature revealed that cases of partial trisomy 18, involving euchromatin of both arms are very rare. After exclusion of patients with additional chromosomal abnormalities, combined segmental rearrangements of chromosome 18, isochromosome 18p or 18q, or small supernumerary marker chromosome in the mosaic state [Marical et al, 2007;Rodr ıguez et al, 2007], we were able to identify only three other cases describing duplications of chromosome 18 with overlap to the region observed in our patient (Table II) [Jaffray et al, 1980;Turleau et al, 1980;Wilson et al, 1990]. All three patients had several phenotypic features of full trisomy 18.…”

Section: To the Editormentioning

confidence: 79%

De novo duplication of 18p11.21–18q12.1 in a female with anorectal malformation

Schramm

Draaken

Bartels

et al. 2011

American J of Med Genetics Pt A

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Section: To the Editormentioning

confidence: 79%

De novo duplication of 18p11.21–18q12.1 in a female with anorectal malformation

Schramm

Draaken

Bartels

et al. 2011

American J of Med Genetics Pt A

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“…Among the 31 previously published cases ( Table 1 ) [Jacobsen and Mikkelsen, 1968;Rosano et al, 1977;Meinecke and Koske-Westphal, 1981;Sujansky and Smith, 1981;Habedank and Trost-Brinkhues, 1983;Johansson et al, 1988;Guillaume et al, 2015]. Nine cases were due to duplication of 18p (from pter to cen) [Wolff et al, 1991;Moog et al, 1994;Li et al, 1998;Grosso et al, 2005;Marical et al, 2007] or an inversion duplication of 18p [Moog et al, 1994]. Three cases of trisomy 18p with a deletion of 18p and an extra isochromosome 18p [Taylor et al, 1975;Takeda et al, 1989;Orendi et al, 2013] and 8 cases associated with a supernumerary marker chromosome [Hernandez et al, 1979;San Martin et al, 1981;Mabboux et al, 2007;Rodriguez et al, 2007;Plaja et al, 2013] have been described.…”

Section: Discussionmentioning

confidence: 98%

Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability

Yang¹,

Jiang²,

Hu³

et al. 2019

Cytogenet Genome Res

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Trisomy 18p is a rarely observed chromosomal aberration. Only 31 cases have previously been described in the literature. Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability. Here, we report on a pregnant woman in whom noninvasive prenatal testing indicated a high risk of fetal trisomy 18. Prenatal diagnosis and karyotyping of the parents were performed and demonstrated that both the mother and the fetus had a derivative chromosome 15 with a segment of unknown origin. Chromosomal microarray analysis and FISH revealed a 14.9-Mb duplication of 18p and detected 3 centromeres of chromosome 18. To our knowledge, this is the first study reporting trisomy 18p due to an unbalanced translocation of 18p onto chromosome 15q showing 2-generation transmission. The results suggest that trisomy 18p can be considered a euchromatic variant.

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“…Trisomy 18p has been reported in only a few cases with no trisomy 18p in 47,XXY KS. The patients were generally considered having mild to normal phenotypic effects [Marical et al, 2007;Rodríguez et al, 2007]. To our knowledge, 31 cases of trisomy 18p have been published up to now.…”

Section: Discussionmentioning

confidence: 99%

47,XY,+der(X)t(X;18)(p11.4;p11.22): A Unique Aneuploidy Associated with Klinefelter Syndrome due to an Extra Derivative X Chromosome Inherited Maternally

Liang¹,

Zhang²,

Zhu

et al. 2015

Cytogenet Genome Res

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A derivative X chromosome formed by translocation involving an X chromosome and a chromosome 18 in a Klinefelter syndrome (KS) patient with a 47,XXY karyotype has not been reported before. In this study, we present the clinical and molecular cytogenetic characteristics. The patient presented with small testes and azoospermia. G-banding analysis identified the karyotype as 47,XY,del(X)(p?11.4). Array CGH detected a 10.36-Mb duplication of chromosome region 18p11.22p11.32 (14,316-10,377,516) and a 111.18-Mb duplication of chromosome region Xp11.4q28 (61,931, 689-155,111,583), in addition to the normal chromosome 18 and an X chromosome. FISH results further revealed the extra 18p located at the end of the short arm of a deleted X chromosome, forming a derivative X chromosome. Finally, we identified the karyotype of the patient as 47,XY,+der(X)t(X;18)(p11.4;p11.22). The derivative X chromosome was maternally inherited. To our knowledge, this rare karyotype has not yet been reported in the literature. The present study may suggest a novel karyotype associated with KS.

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18p trisomy: A case of direct 18p duplication characterized by molecular cytogenetic analysis

Cited by 23 publications

References 14 publications

De novo duplication of 18p11.21–18q12.1 in a female with anorectal malformation

De novo duplication of 18p11.21–18q12.1 in a female with anorectal malformation

Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability

47,XY,+der(X)t(X;18)(p11.4;p11.22): A Unique Aneuploidy Associated with Klinefelter Syndrome due to an Extra Derivative X Chromosome Inherited Maternally

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