Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization

Machado, Isabela Nelly; Heinrich, J; Campanhol, C; Peres, Raquel Mary Rodrigues; Oliveira, Fábio Morato de; Barini, Ricardo

doi:10.4238/vol9-1gmr716

Cited by 12 publications

(12 citation statements)

References 29 publications

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“…The third case had de novo partial monosomy 10p (at least 4.8 Mb from 10pter) and partial trisomy 13q (estimated 0.7 Mb from 13qtel) from a der(10)t(10;13)(p15.2;q34), the congenital malformations might be associated with the partial 10p deletion and the craniofacial features might be attributed to the 13q duplication [5]. Partial trisomy 13q along with structural rearrangements of other chromosomes has been reviewed and those previously reported cases lacked the molecular mapping of breakpoints and gene content by the current genomic technology [6]. All of these previous observations indicated the importance of defining the breakpoints and gene content of compound abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Wei

Gao

Yan

et al. 2012

Case Reports in Genetics

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We report prenatal diagnosis and postnatal findings of a fetus with partial trisomy of 13q21.33-qter and partial monosomy of 10p15.3-pter. The mother is a known carrier of a balanced translocation, t(10;13)(p15.3;q21.33), ascertained by history of one miscarriage and two neonatal deaths. The fetal karyotyping on cultured amniocytes showed 46,XX,der(10)t(10;13)(p15.3;q21.33). Oligonucleotide array comparative genomic hybridization (aCGH) defined a 2.339 Mb distal deletion at 10p15.3 (chr10:126,161–2,465,089) and a 46.344 Mb duplication of 13q21.33–q34 (chr13:67,779,708–114,123,540). Ultrasound examination showed polydactyly and polyhydramnios in the fetus. After genetic counseling, the mother decided to continue the pregnancy, and follow-up ultrasound monitoring found no further abnormalities. A girl was delivered at 37+6 weeks of gestation and was transferred to the intensive care unit for intermittent convulsions within 26 hours. She was diagnosed with neonatal hypoxic ischemic encephalopathy and experienced several episodes of apnea in the following month. Her birth weight was 2900 g (10–25th centile) and at five months was 5500 g (5–10th centile). She had dysmorphic features and mild psychomotor retardation. A review of the literature found three previously reported cases with similar compound 10p/13q abnormalities. We discuss a two-step approach to assess fetal viability and phenotype using genomic information from partial trisomy and monosomy.

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Wei

Gao

Yan

et al. 2012

Case Reports in Genetics

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“…Both the present case and the fetus described by Tapper et al [2002] had left side diaphragmatic hernia and had similar duplicated regions. Machado et al [2010] described a fetus with complete diaphragm agenesis and a duplicated region which was much larger (13q14-qter). Complete agenesis of the diaphragm is a rare variant of diaphragmatic hernia and it has to our knowledge only been associated with partial trisomy 13q in the case described by Machado et al [2010].…”

Section: Discussionmentioning

confidence: 99%

Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

Jønch

Larsen

Pouplier

et al. 2012

American J of Med Genetics Pt A

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Partial duplications and deletions of chromosome 13 are rare and the phenotypic expressions of both aneuploidies are highly variable. Here we report on a fetus diagnosed prenatally with partial trisomy of 13q and a diaphragmatic hernia as a sole malformation. The parents had decided to terminate the pregnancy after the finding of diaphragmatic hernia by ultrasound scan, which was also confirmed by autopsy of the fetus. Subsequently chromosome analysis, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (array CGH) was carried out on fetal tissue. The chromosome analysis revealed additional material on chromosome 13, which was shown to be from the same chromosome, by FISH analysis. Array CGH demonstrated a partial duplication and a small deletion at the distal long arm of chromosome 13. The parents had normal karyotypes. This is the first case of a de novo pure partial duplication of 13q31.3-q34 and distal deletion of 13q34 with a phenotype apparently only involving a diaphragmatic hernia and three lung lobes on both sides. Microarray analysis was useful in refining the chromosomal imbalance and suggesting a candidate region for diaphragmatic hernia.

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“… Schematic representation of the distal part of chromosome 13q and localization of the duplications. The previously published duplications are shown as horizontal lines above the ideogram [Tohma et al, 1998 case 2, Warburton et al, 2000 case 13e, Tapper et al, 2002; Machado et al, 2010]. The duplication described by Machado et al [2010] extends further proximally (arrow).…”

Section: Resultsmentioning

confidence: 96%

Cast polyurethane elastomers with improved dynamic fatigue resistance

Xie

Lakrout

Mueller

2011

J of Applied Polymer Sci

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Cast polyurethane (PU) elastomers have been widely used in dynamic applications, such as rollers and wheels, where a low heat buildup, high‐loading resistance, and good cut‐growth resistance are desired. Because of their different molecular structure, cast PU elastomers do not perform in the same way in highly demanding dynamic applications. Small variations in the viscoelastic properties can result in significant differences in the longevity of the wheels and rollers that are subjected to a large number of cyclic compressive deformations. Therefore, it is of great interest to understand dynamic performance of urethane elastomers based on various backbones. Dynamic mechanical analysis (DMA) is commonly used to differentiate the dynamic performance of elastomers, but it only provides characterization of the dynamic behavior of a given elastomer at small deformation in the linear viscoelastic regime, where information such as the heat buildup and load‐bearing capability of elastomers cannot be obtained. As such, we developed a stress‐controlled flexometer on the basis of the ISO4666/4 method that enabled measurement of the heat buildup and load‐bearing capabilities of urethane elastomers in a large dynamic deformation environment. Moreover, a dynamometer was constructed to evaluate wheels based on different urethane elastomers under load at various speeds; this allowed close simulation of the urethane elastomers in a real application environment. In this article, the viscoelastic properties of cast urethane elastomers based on different backbones were studied by DMA. The heat buildup and load‐bearing capabilities of the elastomers were investigated via the stress‐controlled flexometer, and the performance of the wheels based on various prepolymer systems were evaluated with the dynamometer. Correlations between the material viscoelastic behavior and the heat buildup were established. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012

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Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization

Cited by 12 publications

References 29 publications

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus

Cast polyurethane elastomers with improved dynamic fatigue resistance

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