Chromosome 14, Trisomy Mosaic

Last update 01 Nov 2024

Basic Info

Synonyms

14 trisomy mosaicism syndrome, 14号染色体，三体镶嵌, Chromosome 14, trisomy mosaic

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Introduction

A rare chromosomal disorder characterized by trisomy of chromosome 14 in some cells in the body. It manifests with intrauterine growth retardation, craniofacial abnormalities, failure to thrive, psychomotor delays, and mental retardation.

100 Clinical Results associated with Chromosome 14, Trisomy Mosaic

100 Translational Medicine associated with Chromosome 14, Trisomy Mosaic

0 Patents (Medical) associated with Chromosome 14, Trisomy Mosaic

Literatures (Medical) associated with Chromosome 14, Trisomy Mosaic

01 May 2021·European Journal of Medical GeneticsQ4 · MEDICINE

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome

Q4 · MEDICINE

Article

Author: Azotla-Vilchis, C ; Durán-McKinster, C ; Navarrete-Meneses, P ; Lieberman-Hernández, E ; Abreu-González, M ; Garza-Mayén, G ; Cifuentes-Goches, J C ; Salas-Labadía, C ; Del Castillo-Ruiz, V ; Pérez-Vera, P ; Márquez-Quiroz, L ; Villarroel, C E ; Ulloa-Avilés, V

Temple syndrome (TS14) can be originated by maternal uniparental disomy (UPD(14)mat), paternal deletion, or epimutation, leading to disturbances in 14q32.2 imprinted region. The most frequent phenotypic manifestations are prenatal and postnatal growth failure, hypotonia, developmental delay, small hands/feet, precocious puberty, and truncal obesity. However, the diagnosis can be challenging due to the clinical overlap with other imprinting disorders such as Silver-Russell or Prader-Willi syndromes. Although rare, TS14 has been also reported in patients with concomitant UPD(14)mat and mosaic trisomy 14. In the present report, the clinical and genetic profiles of two new patients with TS14 are described. SNParray and MS-MLPA, allowed the determination of segmental UPD(14)mat and the hypomethylation of MEG3 gene. Additionally, in one of our patients we also observed by cytogenetics a small supernumerary marker chromosome that led to partial trisomy 14 in mosaic. Only few patients with concomitant UPD(14)mat and mosaic partial trisomy 14 have been reported. Our patients share cardinal TS14 phenotypic features that are associated to the genetic abnormalities detected; however, we also observed some clinical features such as fatty liver disease that had not previously been reported as part of this syndrome. The detailed clinical, cytogenetical and molecular description of these two new patients, contributes to a more accurately delineation of this syndrome.

01 Jan 2020·Cytogenetic and Genome Research

Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14

Author: Stefanou, Eunice G ; Efthymiadou, Alexandra ; Liehr, Thomas ; Velissariou, Voula ; Angelopoulou, Eleni ; Sachinidi, Francis ; Chrysis, Dionisios ; Christopoulou, Stavroula ; Florentin, Lina

Trisomy 14 (T14) mosaicism is a rare chromosomal condition characterised by various clinical features, including developmental delay, growth impairment, and dysmorphism. Here, we report on a 12-year-old female referred for cytogenetic analysis due to short stature. Standard GTG-banding analysis on the patient’s peripheral blood revealed mosaic Τ14 in the form of an i(14)(q10) in 3% of cells. Furthermore, a small supernumerary marker chromosome (sSMC) had been detected in the first trimester of pregnancy in chorionic villus sampling. A skin biopsy in the patient revealed the presence of a metacentric sSMC in 100% of cells. Cytogenetic and FISH studies showed that it was a de novo metacentric bisatellited sSMC derived from chromosomes 14 or 22. Oligonucleotide array-CGH using skin cells revealed no copy number variations. Studies for uniparental disomy 14 by microsatellite analysis confirmed biparental inheritance. To the best of our knowledge, this is the second report of a patient with 2 abnormal cell lines involving chromosome 14 in different tissues, one with mosaic T14 in the form of i(14)(q10) and one with an sSMC derived from chromosome 14, present in blood and skin, respectively. A rare mechanism of trisomy rescue events is proposed to explain the presence of the different cell lines in the tissues examined. This case highlights the importance of providing the cytogenetics laboratory with adequate clinical data to test for low mosaicism and analyse different tissues if necessary, thus contributing to the suitable clinical management of the patient.

01 Jan 2020·Cytogenetic and Genome ResearchQ4 · BIOLOGY

Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation

Q4 · BIOLOGY

Article

Author: Eid, Maha M. ; Abdelfattah, Usama ; Abdel-Salam, Ghada M. H. ; Hussein, Shymaa H. ; Mohamed, Amal M. ; Mossaad, Aida M. ; Eid, Ola M. ; Elbanoby, Tarek M. ; Sharafuddin, Mohab A. ; El Halafawy, Yasser M.

Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft palate, congenital heart disease, and abnormal skin pigmentations. The patient displayed iris, choroidal, and retinal coloboma and agenesis of the corpus callosum and cerebellar vermis hypoplasia. Cytogenetic analysis revealed a karyotype 45,X,der(X)t(X;14)(q24;q11)[85]/46,XX,rob(14;14)(q10;q10),+14[35]. Array-CGH for blood and buccal mucosa showed high mosaic trisomy 14 and an Xq deletion. MLPA detected trisomy 14 in blood and buccal mucosa and also showed normal methylation of the imprinting center. FISH analysis confirmed the cell line with trisomy 14 (30%) and demonstrated the mosaic deletion of the Xq subtelomere in both tissues. There was 100% skewed X inactivation for the t(X;14). SNP analysis of the patient showed no region of loss of heterozygosity on chromosome 14. Also, genotype call analysis of the patient and her parents showed heterozygous alleles of chromosome 14 with no evidence of uniparental disomy. Our patient had a severe form of mosaic trisomy 14. We suggest that this cytogenetic unique finding that involved 2 cell lines with structural abnormalities of chromosome 14 occurred in an early postzygotic division. These 2 events may have happened separately or maybe there is a kind of trisomy or monosomy rescue due to dynamic cytogenetic interaction between different cell lines to compensate for gene dosage.

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Chromosome 14, Trisomy Mosaic

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