ArticleMolecular cytogenetics2014
Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Article
- Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome.Molecular cytogenetics · 2026Article
- Case Report: Severe neonatal lupus in an infant with homozygousFrontiers in immunology · 2026Article
- Bilateral Inferior Head Turbinate Agenesis.Cureus · 2024Article
- Intussusception in Mosaic Trisomy 14.ACG case reports journal · 2024Article
- Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.Orphanet journal of rare diseases · 2019Article
- Review
- A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.Molecular syndromology · 2018Article
- A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.Journal of human genetics · 2018Review
- Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.Clinical case reports · 2016Article
- Article
- Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.Molecular cytogenetics · 2016Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
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Abstract
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.
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