Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl

Balbeur, Samuel; Grisart, Bernard; Parmentier, Benoît; Sartenaer, D.; Leonard, Pierre‐Emmanuel; Ullmann, Urielle; Boulanger, Sébastien; Leroy, Luc; Ngendahayo, P.; Lungu‐Silviu, Constantin; Lysy, Philippe A.; Maystadt, Isabelle

doi:10.1002/ccr3.501

Cited by 20 publications

(21 citation statements)

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“…Since the array-CGH platforms do not usually present oligos in the close proximity of the centromere, we cannot exclude that a second crossing-over has taken place, leading to a het- erodisomic region between the centromere and 20,490,852 bp, as described by Antonarakis et al [1993]. In this hypothetical mechanism, one of these abnormal maternal gametes could then have been fertilized by a normal paternal gamete, leading to a trisomic zygote, followed by a trisomic rescue with the loss of the paternal copy of chromosome 14 [Balbeur et al, 2016]. This mechanism may be characterized by a mosaic trisomy involving the UPD chromosome, as recently demonstrated in a 15-year-old girl [Balbeur et al, 2016].…”

Section: Discussionmentioning

confidence: 88%

“…In this hypothetical mechanism, one of these abnormal maternal gametes could then have been fertilized by a normal paternal gamete, leading to a trisomic zygote, followed by a trisomic rescue with the loss of the paternal copy of chromosome 14 [Balbeur et al, 2016]. This mechanism may be characterized by a mosaic trisomy involving the UPD chromosome, as recently demonstrated in a 15-year-old girl [Balbeur et al, 2016]. We did not find a chromosome 14 mosaicism, but a very low level of mosaicism in the blood or its presence in other tissues cannot be excluded.…”

Section: Discussionmentioning

confidence: 99%

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Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

et al. 2017

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Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice. A boy with a de novo robertsonian translocation 45,XY,rob(13;14)(q10;q10) is reported; a CGH/SNP array showed a loss of heterozygosity in 14q11.2q13.1. The final diagnosis of upd(14)mat was made by microsatellite analysis, which showed a combination of heterodisomy and isodisomy for different regions of chromosome 14. Obesity after initial failure to thrive developed, while compulsive eating habits were not present, which was helpful for the clinical differential diagnosis of Prader-Willi syndrome. In addition, the boy presented with many phenotypic features associated with upd(14)mat along with hypoesthesia to pain, previously unreported in this disorder, and bilateral cryptorchidism, also rarely described. These features, as well as other clinical manifestations (i.e., truncal obesity, altered pubertal timing), may suggest a hypothalamic-pituitary involvement. A detailed cytogenetic and molecular characterization of the genomic rearrangement is presented. Early genetic diagnosis permits a specific follow-up of children with upd(14)mat in order to optimize the long-term outcome.

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Section: Discussionmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

et al. 2017

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“…At the same time, it is known that no direct correlation has been found between the abnormal skin pigmentation and chromosome 14 trisomy mosaicism in fibroblasts. The literature describes patients with absence of trisomy 14 in the abnormal skin samples [Lynch et al, 2004] and patients with the presence of identical level of trisomy 14 mosaicism in both hyperpigmented and normal skin [Salas-Labadia et al, 2014;Balbeur et al, 2016]. The presence of trisomic cells in the skin fibroblasts of individuals without pigmentary skin lesions is also reported [Petersen et al, 1986;Merritt and Natarajan, 2007].…”

Section: Discussionmentioning

confidence: 99%

“…The exact prevalence of these conditions is unknown, and there are less than 100 cases of TS14, and fewer than 50 cases of mosaic trisomy 14 described in the literature [Ioannides et al, 2014;Salas-Labadia et al, 2014;Kagami et al, 2017]. A mole cularly and cytogenetically confirmed combination of UPD(14)mat and mosaic trisomy 14 have been currently reported only in 8 live-born cases [Antonarakis et al, 1993;Kayashima et al, 2002;Cox et al, 2004;Pecile et al, 2015;Stalman et al, 2015;Balbeur et al, 2016;Zhang et al, 2016;Ushijima et al, 2017].…”

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confidence: 99%

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

Yakoreva¹,

Kahre²,

Pajusalu³

et al. 2018

Mol Syndromol

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Temple syndrome (TS14) is a relatively recently discovered imprinting disorder caused by abnormal expression of genes at the locus 14q32. The underlying cause of this syndrome is maternal uniparental disomy of chromosome 14 (UPD(14)mat). Trisomy of chromosome 14 is one of the autosomal trisomies; in humans, it is only compatible with live birth in mosaic form. Although UPD(14)mat and mosaic trisomy 14 can arise from the same cellular mechanism, a combination of both has been currently reported only in 8 live-born cases. Hereby, we describe a patient in whom only UPD(14)mat-associated TS14 was primarily diagnosed. Due to the patient's atypical features (for TS14), additional analyses were performed and low-percent mosaic trisomy 14 was detected. It can be expected that the described combination of 2 etiologically related conditions is actually more prevalent. Additional chromosomal and molecular investigations are indicated for every patient with UPD(14)mat-associated TS14 with atypical clinical presentation.

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“…Balbeur et al detected a similar low level trisomy 14 mosaicism in both hyperpigmented and normal skin [20]. Thus it is not known if trisomy 14 mosaicism directly contributed to the abnormal skin pigmentation phenotype.…”

Section: Discussionmentioning

confidence: 99%

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

et al. 2016

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BackgroundBoth maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have so far been reported.Case presentationHere we reported a case of concomitant UPD(14)mat and mosaic trisomy 14 in a 10-year-old Chinese patient. Most clinical features of our patient were consistent with those previous reported for UPD(14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty. SNP array analysis revealed a mixture of chromosome 14 maternal isodisomy with heterodisomy and a low level trisomy mosaicism of whole chromsome 14 in blood and hyperpigmented skin samples, whereas only UPD(14)mat was detected in normal skin sample. Cytogenetic analysis identified one trisomy 14 cell in 100 metaphase of peripheral blood lymphocytes (47,XX, +14[1]/46,XX[99]).ConclusionsTo our knowledge, this is the first case of a patient with UPD(14)mat and mosaic trisomy 14 reported in a Chinese patient. The definitive genetic diagnosis is beneficial for genetic counseling and clinical management of our patient, and for improving our understanding of the genotype-phenotype correlations of concomitant UPD(14)mat and mosaic trisomy 14.Electronic supplementary materialThe online version of this article (doi:10.1186/s13039-016-0274-4) contains supplementary material, which is available to authorized users.

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Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl

Cited by 20 publications

References 14 publications

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

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