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

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

doi:10.1159/000506430

Cited by 1 publication

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“…Trisomy 14 (T14) mosaicism is a well-known but rare chromosomal condition with approximately 40 cases reported to date [Salas-Labadía et al, 2014;Mohamed et al, 2020]. The most common clinical features are growth and psychomotor deficiency, developmental delay, and dysmorphic features.…”

Section: Introductionmentioning

confidence: 99%

“…Buccal smear tissue for FISH studies was not available. To the best of our knowledge, this is the fourteenth case of T14 mosaicism due to an acrocentric rearrangement [Turleau et al, 1980;Jenkins et al, 1981;Ozawa et al, 1984;Pangalos et al, 1984;Fujimoto et al, 1985;Antonarakis et al, 1993;Tunca et al, 2000;Shinawi et al, 2008;Von Sneidern and Lacassie, 2008;Wannenmacher et al, 2016;Mohamed et al, 2020], the fifth case regarding T14 where 2 different abnormal cell lines are seen in the same patient [Pangalos et al, 1984;Tzoufi et al, 2007;Salas-Labadía et al, 2014;Mohamed et al, 2020], the second case in which the abnormal cell lines do not co-exist but are present in different tissues [Pangalos et al, 1984], and the first case in which the marker initially identified prenatally is of bisatellited origin.…”

Section: Introductionmentioning

confidence: 99%

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

Velissariou

Sachinidi

Christopoulou

et al. 2020

Cytogenet Genome Res

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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.

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Section: Introductionmentioning

confidence: 99%