Mosaic tetrasomy 14pter‐q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q

Eggermann, Thomas; Gamerdinger, Ulrike; Bosse, K; Heidrich-Kaul, Christiane; Raff, Ruth; Meyer, Esther; Heil, Ingeborg; Schüler, H; Korsch, Eckhard; Schwanitz, Gesa

doi:10.1002/ajmg.a.30631

Cited by 10 publications

(11 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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%

“…Isodicentric chromosomes are supernumerary marker chromosomes that can be described as end‐to‐end duplications of centromere‐containing chromosomal material. When they occur in addition to 46 normal chromosomes, the result is a tetrasomy for the region involved [Eggermann et al, ]. Some recurrent isodicentric chromosomes, such as the idic(15) and the marker chromosome 22, are associated with specific syndromes while others occur rarely [McDermid and Morrow, ; Battaglia, ].…”

Section: Introductionmentioning

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%

See 2 more Smart Citations

Partial tetrasomy 14 associated with multiple malformations

Winberg

Lagerstedt‐Robinson

Naess

et al. 2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 74%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Partial tetrasomy 14 associated with multiple malformations

Winberg

Lagerstedt‐Robinson

Naess

et al. 2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Partial trisomy 14 was also described in several reports from 40 yr ago [10-12]. Most of these patients were offspring of carriers of balanced translocations.…”

Section: Discussionmentioning

confidence: 70%

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

Kim

Ryoo

et al. 2013

Ann Lab Med

View full text Add to dashboard Cite

We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.

show abstract

“…However, to our knowledge the mother and the DS child represent the first case of familial trisomy 14 (:p11-q11:) . The familial transmission of an extra sSMC 14(:p11-q11:) might be due to nondisjuction in both mother and the DS child, as small acrocentric chromosomes prone to nondisjunction, 10 Eggermann et al 11 reported mosaic tetrasomy of 14pter-q13 due to de-novo supernumerary pseudoisodicentric chromosome in a 2-yr-old boy with multiple dysmorphisms and malformations. The uniparental disomy of the 14q have been reported in various clinical conditions.…”

Section: Discussionmentioning

confidence: 97%

Familial small supernumerary marker chromosome (sSMC) (14)(:P11–q11:)In a child with translocation down syndrome

2009

View full text Add to dashboard Cite

We report a case of familial small supernumerary marker chromosome (sSMC)in a child with translocation Down syndrome (DS)and mother. The GTG-banded chromosomal analysis of DS child revealed 47,XY,+21,+mar and mother karyotype was 47,XX,+mar. The GTG-banded sSMC had a similar morphology of small acrocentric chromosomes. Fluorescence in situ hybridization (FISH)evaluation of sSMC using centromere probes(13/21,14/22,22)confirmed sSMC as derivative chromosome 14. The sSMC was not specifically stained with whole chromosome paint and arm-specific probes for chromosome 14;thus it has been described as der(14)(:p11-q11:).The phenotypic changes were not evident, may be due to trisomy condition in the child or the sSMC contain repetitive sequences.

show abstract

Mosaic tetrasomy 14pter‐q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q

Cited by 10 publications

References 8 publications

Partial tetrasomy 14 associated with multiple malformations

Partial tetrasomy 14 associated with multiple malformations

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

Familial small supernumerary marker chromosome (sSMC) (14)(:P11–q11:)In a child with translocation down syndrome

Contact Info

Product

Resources

About