Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

Plaja, Alberto; Lloveras, Elisabet; Martínez-Bouzas, Cristina; Barreña, Beatriz; Campo, Miguel del; Fernández, Asunción; Herrero, Marta; Barranco, Laura; Palau, Núria; López-Aríztegui, María-Asunción; Català, Vicenç; Tejada, María-Isabel

doi:10.1002/ajmg.a.36102

Cited by 7 publications

(5 citation statements)

References 19 publications

(31 reference statements)

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“…Patient 1 had a trisomy for the short arm of chromosome 18 originating from a small supernumerary marker chromosome (sSMC). Interestingly, Trisomy 18p caused by sSMC has been previously reported in six patients [29]. The phenotype of our patient is in agreement with previously described patients with such similar chromosome abnormality [30].…”

Section: Discussionsupporting

confidence: 92%

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

et al. 2014

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BackgroundArray-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa.MethodsArray comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent’s 180 K microarray platform.ResultsFourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances.ConclusionThis study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries.

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Section: Discussionsupporting

confidence: 92%

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

et al. 2014

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“…Four cases had reproductive malformations or dysfunctions. Among the 4 cases, 3 had cryptorchidism [Grosso et al, 2005;Mabboux et al, 2007] and in one, pregnancy was terminated at 22 weeks because of the uncertain prognosis, without performing fetal necropsy [Plaja et al, 2013]. Our case did not have identical reproductive nor other symptoms included in these 12 cases.…”

Section: Discussionmentioning

confidence: 68%

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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“…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. Our study is the first one reporting trisomy 18p due to an unbalanced translocation dic(15; 18).…”

Section: Discussionmentioning

confidence: 99%

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 caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

Cited by 7 publications

References 19 publications

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

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

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

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