Partial tetrasomy chromosome 14. A new prenatal diagnosis case

Fdez-Novoa, C.; Mt, Vargas; Torres, Francisco Javier; Mun̄oz, José Santos

doi:10.1002/pd.1465

Cited by 3 publications

(7 citation statements)

References 9 publications

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“…To our best knowledge, this is the first report on a case of a non‐mosaic partial tetrasomy of chromosome 14 resulting from a triplication of paternal origin. The phenotype of our patient was severe and decidedly different from the previously published cases [Nuessle and Miles, ; George et al, ; Eggermann et al, ; Fdez‐Novoa et al, ; Schwanitz et al, ; Winberg et al, ]. None of the patients with tetrasomy 14q11q13 described before [Nuessle and Miles, ; George et al, ; Eggermann et al, ; Fdez‐Novoa et al, ; Schwanitz et al, ; Winberg et al, ] had blepharophimosis, small thorax, joint contractures, and our proband did not have cleft lip/palate nor iris coloboma.…”

Section: Discussioncontrasting

confidence: 61%

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The first de novo non‐mosaic 14q11.2q13.1 tetrasomy of paternal origin

Tomaszewska

Behrendt

Boter

et al. 2016

American J of Med Genetics Pt A

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Tetrasomy 14q11q13 is a very rare chromosome aberration. So far, only five patients with such an imbalance were described. All these patients had a de novo marker chromosome idic(14)(q13) leading to a partial tetrasomy of chromosome 14. We report on the first case of a de novo non-mosaic partial tetrasomy 14q resulted not from a marker chromosome, but from an inverted triplication on paternal chromosome 14, characterized by using FISH and SNP array. Our patient showed some anomalies described in tetrasomy 14q11q13 with striking presence of paternal UPD(14) features (blepharophimosis, small thorax, and joint contractures, developmental delay). This unique patient supports the hypothesis that 14q11q13 may contain imprinted gene(s) that contribute to the paternal UPD(14) features of joint contractures and/or blepharophimosis. This patient demonstrates the utility of parent of origin testing in patients with de novo chromosome 14 aberrations. Overdosage of 14q11.1q13.1 may cause some features related to UPD(14) phenotype.

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Section: Discussioncontrasting

confidence: 61%

“…Tetrasomy 14q11q13 is a very rare chromosome aberration. Until now, only five patients were reported [Nuessle and Miles, ; George et al, ; Eggermann et al, ; Fdez‐Novoa et al, ; Schwanitz et al, ; Winberg et al, ]. All these patients had a marker chromosome idic(14)(q13) resulting in partial tetrasomy of chromosome 14.…”

Section: Introductionmentioning

confidence: 99%

The first de novo non‐mosaic 14q11.2q13.1 tetrasomy of paternal origin

Tomaszewska

Behrendt

Boter

et al. 2016

American J of Med Genetics Pt A

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“…Patients with idic(14)(q13) are rare, the present patient is the fifth case reported in the literature and the third live‐born (Table ) [Nuessle and Miles, ; George et al, ; Eggermann et al, ; Fdez‐Novoa et al, ; Schwanitz et al, ]. A spectrum of clinical features has been reported in association with partial tetrasomy 14q, and recurrent features include craniosynostosis, dysmorphic facial appearance with cleft lip and palate, coloboma of the iris, cardiac malformations and digital anomalies, as well as growth retardation and intellectual disability.…”

Section: Discussionmentioning

confidence: 74%

“…The first reported live‐born patient with non‐mosaic 14q tetrasomy survived 11 months, while the other two non‐mosaic cases were detected prenatally and both resulted in elective termination of the pregnancy [Nuessle and Miles, ; George et al, ; Fdez‐Novoa et al, ]. Eggermann et al [] reported a 7‐year follow‐up of a patient with a mosaic form of tetrasomy 14q associated with intellectual disability and motor retardation [Schwanitz et al, ].…”

Section: Discussionmentioning

confidence: 99%

“…Isodicentric chromosomes involving chromosome 14 have only been reported in a few patients and most of these have been studied using cytogenetic methods [Nuessle and Miles, ; George et al, ; Eggermann et al, ; Fdez‐Novoa et al, ; Schwanitz et al, ]. In this report we have used cytogenetic studies, array‐based comparative genomic hybridization (CGH), and polymorphic marker analysis in order to define the breakpoints, origin, and mechanism of formation of the marker chromosome 14 in a patient with multiple malformations.…”

Section: Introductionmentioning

confidence: 99%

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Partial tetrasomy 14 associated with multiple malformations

Winberg

Lagerstedt‐Robinson

Naess

et al. 2013

American J of Med Genetics Pt A

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We report on an 8-year-old female patient with multiple malformations including bilateral cleft lip and palate, coloboma, and craniosynostosis. She presented with severe intellectual disability, seizures, and gastrointestinal dysfunction. Mitochondrial investigations in a muscle biopsy revealed reduced activity in complex I of the mitochondrial respiratory chain. Chromosome analysis and fluorescent in situ hybridization (FISH) studies showed an isodicentric marker chromosome 14 that was identified in all cells analyzed in peripheral blood lymphocytes and cultured fibroblasts. Parental chromosome studies were normal. To further characterize the marker chromosome and determine its origin, we performed array-based comparative genomic hybridization (CGH) and polymorphic marker analysis with quantitative fluorescent PCR (QF-PCR). The combined results from cytogenetic and array-CGH analyses showed tetrasomy 14p13q13.1 and results from the QF-PCR point to formation of the marker chromosome in the maternal meiosis. Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non-mosaic form surviving beyond infancy.

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2007

Current Opinion in Obstetrics &Amp; Gynecology

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Partial tetrasomy chromosome 14. A new prenatal diagnosis case

Cited by 3 publications

References 9 publications

The first de novo non‐mosaic 14q11.2q13.1 tetrasomy of paternal origin

The first de novo non‐mosaic 14q11.2q13.1 tetrasomy of paternal origin

Partial tetrasomy 14 associated with multiple malformations

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