Partial trisomy 10 (10q11.2→pter) and partial trisomy 18 (18p11.2→pter) associated with abnormal sonographic findings and a maternal serum screen‐positive result

Chen, C.-P.; Chang, Tzu-Yang; Town, Dai Dyi; Chen, L.-F.; Pan, Chen-Wen; Wang, W.; Tzen, Chin Yuan

doi:10.1002/uog.957

Cited by 2 publications

(2 citation statements)

References 43 publications

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“…In order to analyze the phenotype of the trisomy 18p more precisely, we excluded published cases associated with abnormalities of other chromosomes [Gardner et al, 1978; Serville et al, 1978; Habedank and Trost‐Brinkhues, 1983; Chen et al, 2004] or segmental aneuploïdies involving a part of the long arm of chromosome 18 [Hernandez et al, 1979; Jaffray et al, 1980; Meinecke and Koske‐Westphal, 1981; San Martin et al, 1981; Sujansky and Smith, 1981; Binkert et al, 1990; Wilson et al, 1991]. We excluded a patient trisomic for the region 18pter → cen in whom FISH indicated a monosomy for 18p11.32 [Moog et al, 1994].…”

Section: Discussionmentioning

confidence: 99%

Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation

Mabboux

Brisset

Aboura

et al. 2007

American J of Med Genetics Pt A

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Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13-year-old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization and comparative genomic hybridization analyses, this SMC corresponded to the p arm of chromosome 18 associated with a centromere of either chromosome 13 or 21 and nucleolus organizing regions (NORs). We report here the first case of a pure and complete trisomy 18p due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation.

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Section: Discussionmentioning

confidence: 99%

Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation

Mabboux

Brisset

Aboura

et al. 2007

American J of Med Genetics Pt A

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“…To our knowledge, 31 cases of trisomy 18p have been published up to now. In order to specifically analyze the phenotype of trisomy 18p, we excluded 12 cases reported in 8 publications associated with anomalies in the structure and number of chromosomes other than 18 [Jacobsen and Mikkelsen, 1968;Gardner et al, 1978;Serville et al, 1978;Johansson et al, 1988;Moog et al, 1994;Chen et al, 2004;Lee et al, 2010;Koshy et al, 2011]. We also excluded 7 cases in 6 publications containing monosomy 18p resulting from translocation of 18p [Taylor et al, 1975;Habedank and TrostBrinkhues, 1983;Takeda et al, 1989;Oner et al, 2000;Hu et al, 2013;Orendi et al, 2013], though gain or loss of short arms of acrocentric chromosomes containing NOR regions was considered less associated with the phenotype according to some studies [Guttenbach et al, 1999;Mabboux et al, 2007].…”

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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Partial trisomy 10 (10q11.2→pter) and partial trisomy 18 (18p11.2→pter) associated with abnormal sonographic findings and a maternal serum screen‐positive result

Abstract: Partial trisomy 10 (10q11.2→pter) and partial trisomy 18 (18p11.2→pter) associated with abnormal sonographic findings and a maternal serum screen-positive result

Cited by 2 publications

References 43 publications

Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation

Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation

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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