Partial trisomy 14q

Pajares, I. López; Delicado, Alicia; Cobos, Patricia; Lledo, Gwendaline; Peralta, Aurelio

doi:10.1007/bf00291928

Cited by 7 publications

(4 citation statements)

References 9 publications

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“…Furthermore, although neither we nor Saller et al (1990) encountered any single umbilical arteries among our 35 and 18 cases, respectively, of trisomy 2 1, there have been reports of such an association being present (Dellenbach et al, 1968;Jean et al, 1969;Konstantinova, 1977;Bjoro, 1983;Leung and Robson, 1989). In addition to the cytogenetic abnormalities listed in this study, there is a wide range of aneuploidies, as documented in case reports, with which single umbilical artery can be associated, including trisomies 7 (Byrne and Blanc, 1985), 9 (Schwartz e f al., 1989), 14 (Lopez-Pajares et al, 1979), and 16 (Roberts and Duckett, 1978); 5p deletion (Bjoro, 1983); and unbalanced translocations such as 45, XY,21p21q (Van Zalen-Sprock et al, 1991). Thus, it is not possible to predict a particular karyotype when a single umbilical artery is encountered.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal abnormalities associated with a single umbilical artery

Khong¹,

George²

1992

Prenatal Diagnosis

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A single umbilical artery was seen in 10 out of 117 cytogenetically abnormal pregnancies. The abnormal karyotypes found to be associated with a single umbilical artery were trisomy 18 (n = 5), monosomy X (n = 2), triploidy (n = 1), sex chromosome (47,XYY; n = 1) and translocation (46t(X,5)(q13p15);n = 1). With the exception of the translocation case, all cases with a single umbilical artery had anatomical defects which were detectable ultrasonographically. This suggests that a single umbilical artery alone is not an indication for prenatal fetal karyotyping.

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Section: Discussionmentioning

confidence: 99%

Chromosomal abnormalities associated with a single umbilical artery

Khong¹,

George²

1992

Prenatal Diagnosis

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“…That was to say, the fetus not only inherited the normal chromosomes 9 and 14 of the parents', but also had a derived abnormal chromosome 14 from the mother. Trisomy 9p was the fourth most frequent chromosome anomaly compatible with long-term survival in live-born infants [13,14,34], meanwhile trisomy 14q was not less than reported trisomy 9p in the literatures of 1970s [16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32]35]. However, the case of partial 9p and 14q trisomy has been reported only once to date [1].…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

Sha

Zhai

et al. 2020

Mol Cytogenet

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Objective: This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound. Methods: The chromosome rearrangements in the fetus were characterized by G-banding and chromosome microarray analysis based on single nucleotide polymorphism (SNP) array of cultured amniocytes and compared with the parents' karyotypes. Results: The fetal abnormal karyotype was 47,XY,+der(14)(9;14)(p23;q22). The SNP array revealed a duplicate 11.8-Mb 9p23-p24.3 fragment and a duplicate 29.6-Mb 14q11.2-q21.3 fragment. The peripheral blood karyotype of the mother was 46,XX,t(9;14)(p23;q22), while the father's was normal at the level of 300~400 bands. A high-resolution karyotype analysis conformed the same abnormality of the mother at the level of 550~650 bands. These results indicated that the fetal chromosomal abnormality probably derived from the mother. The fetal nuchal translucency thickness was 3.5 mm, and the fetal heart was detected with around 1.0-mm ventricular defect by the ultrasound examination at 12-week gestation. The couple decided to terminate the pregnancy. They opted for in vitro fertilization and embryo transfer for the fourth pregnancy, which was successful. Conclusions: The SNP array combined with cytogenetic analysis was particularly effective in identifying abnormal chromosomal rearrangements. These methods combined with the existing database information and fetal ultrasonography might provide a comprehensive and efficient way for the prenatal assessment of fetal situations. Preimplantation genetic diagnosis might effectively assist those women with an adverse pregnancy history in their next pregnancy.

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“…However, reliable genotype-phenotype correlations are hampered by the fact that the majority of cases of proximal partial trisomy 14q were the result of parentally transmitted unbalanced translocations. Overall, about 35 cases have been reported presenting variable phenotypes [9][10][11], including mosaic trisomy 14 associated with a Dandy Walker malformation [12,13,20].…”

Section: Introductionmentioning

confidence: 99%

Constitutional Partial Proximal Trisomy 14q11.2 to 14q21: Two New Moroccan Cases and Review of the Literature

Merhni¹,

Zerkaoui²,

Natiq³

et al. 2018

obm genet

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Small supernumerary marker chromosomes (sSMCs), a major problem in clinical cytogenetics, are too small to be characterized for their chromosomal origin by cytogenetic banding techniques. Most sSMCs have not yet been correlated with a specific clinical syndrome, and genotype-phenotype correlation in sSMC patients is still very much under development. In this paper, we report two new Moroccan cases with polymalformative syndrome in which we identified similar but not identical sSMCs derived from chromosome 14; in one case a +del(14)(q21.1) and a +del(14)(q21.2) in the other. To the best of our knowledge, such de novo proximal partial trisomies 14 have previously been reported in Keywords Polymalformative syndrome; karyotyping; small supernumerary marker chromosomes (sSMCs); fluorescence in situ hybridization (FISH); partial trisomy 14q21; tumor risk.

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Partial trisomy 14q

Cited by 7 publications

References 9 publications

Chromosomal abnormalities associated with a single umbilical artery

Chromosomal abnormalities associated with a single umbilical artery

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

Constitutional Partial Proximal Trisomy 14q11.2 to 14q21: Two New Moroccan Cases and Review of the Literature

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