Is trisomy 14 mosaic a clinically recognizable syndrome?—Case report and review

Sneidern, Erika von; Lacassie, Yves

doi:10.1002/ajmg.a.32334

Cited by 20 publications

(23 citation statements)

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“…As a result of this phenotypic overlap, the term “general chromosomal mosaic syndrome” has been coined [ 35 ]. However, for a subset of these conditions, specific syndromic patterns have emerged (summarized in Table 2 [ 4,16,21,23-25,33-75 ]), thereby facilitating the recognition of the chromosomal basis for these individual's health/developmental problems.…”

Section: Constitutional Autosomal Aneuploidymentioning

confidence: 99%

“…In addition to chromosome-specific variation in aneuploidy frequencies, individual-specific variation in acquired aneuploidy and micronuclei frequencies has been reported [ 35,109,126,128,130,149,150 ], with both genetic (65% of variance) and environmental (35% of variance) factors being shown to influence these frequencies [ 92,119,131 ] (Figure 5). Environmental exposures that have been shown to increase the frequency of micronuclei include, but are not limited to, diet (especially folate deficiency) [ 131,151-153 ], hormone levels [ 131,154 ], tobacco, alcohol and occupational hazards [ 119,131 ].…”

Section: Acquired Autosomal Aneuploidy In Healthy Individualsmentioning

confidence: 99%

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Constitutional and Acquired Autosomal Aneuploidy

Jackson‐Cook

2011

Clinics in Laboratory Medicine

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Section: Constitutional Autosomal Aneuploidymentioning

confidence: 99%

Section: Acquired Autosomal Aneuploidy In Healthy Individualsmentioning

confidence: 99%

Constitutional and Acquired Autosomal Aneuploidy

Jackson‐Cook

2011

Clinics in Laboratory Medicine

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“…The most common clinical characteristics (Table 1) are growth and psychomotor retardation, dysmorphic craniofacial features such as broad nose, abnormal or low-set ears, micrognathia, cleft or highly arched palate, short neck, congenital heart and genitourinary abnormalities [3,4]. Other features reported are hypertelorism, body asymmetry and abnormal skin pigmentation [1,2]. …”

Section: Introductionmentioning

confidence: 99%

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

et al. 2014

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BackgroundTrisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year-old female with an unusual karyotype with three cell lines: 47,XX,+mar/47,XX,+14/46,XX. At six months old she had short stature, cleft palate, hyperpigmented linear spots in arms and legs and developmental delay. At present, she has mild facial dysmorphism and moderate mental retardation.MethodsCytogenetic analysis was performed in peripheral blood lymphocytes and in the light and dark skin following standard methods. DNAarray – Oligo 180 k was carried out using Agilent Technologies and FISH analysis was accomplished using DNA BACs probes to confirm the result obtained by DNAarray. Methylation-Specific PCR (MS-PCR) of the MEG3 promoter and microsatellite analysis were performed.ResultsMicroarray analysis confirmed partial trisomy 14 mosaicism; the marker chromosome was found to be from chromosome 14, the result was confirmed with FISH. Methylation (14q32.3) and microsatellite (14q11-14q32.33) analysis were carried out and UPD was discarded. The global result was: mos 47,XX,+del(14)(q11.2)[45]/47,XX,+14[10]/46,XX[45].ConclusionsThis is a unique case because of the coexistence of two abnormal cell lines, including one with +14 and another with +del(14)(q11.2). To our knowledge, only three patients have been reported with trisomy 14 and another abnormal cell line. The array analysis identified the marker chromosome and characterized the breakpoint. The del(14)(q11.2) does not seem to be related to any particular phenotypic characteristic of the patient; the clinical features of our patient observed until now, can be attributed to trisomy 14 mosaicism. Nevertheless, we cannot discard the manifestation of new symptoms related to her karyotype in the future.Electronic supplementary materialThe online version of this article (doi:10.1186/s13039-014-0065-8) contains supplementary material, which is available to authorized users.

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“…The most commonly described dysmorphic facial features are abnormal palpebral fissures, a prominent or broad forehead, broad nose, low-set ears, micrognathia, a short neck, and redundant neck skin folds. Most symptoms of mosaic trisomy 14 are nonspecific and frequently found in other mosaic chromosomal syndromes [von Sneidern and Lacassie, 2008;Salas-Labadia et al, 2014].…”

mentioning

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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Is trisomy 14 mosaic a clinically recognizable syndrome?—Case report and review

Cited by 20 publications

References 23 publications

Constitutional and Acquired Autosomal Aneuploidy

Constitutional and Acquired Autosomal Aneuploidy

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

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

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