[HTML][HTML] Evaluation of chromosomal structural anomalies in fertility disorders

D Serapinas, E Valantinavičienė, E Machtejevienė… - Medicina, 2021 - mdpi.com
… The mutations comprised changes in the mosaic, translocation and inversion types of
chromosomes in the obtained karyotypes. However specific inversion of the 9th chromosome-46, …

Mosaicism in human health and disease

J Thorpe, IA Osei-Owusu, BE Avigdor… - Annual review of …, 2020 - annualreviews.org
… (a) We distinguish germline mosaicism from somatic mosaicism. (b) We describe classes
of … one or more extra or missing chromosomes leading to an unbalanced chromosome …

A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins

EI Atli, E Atli, S Yalcintepe, H Gurkan - Molecular Syndromology, 2020 - karger.com
… Our cases suggested that one of the parents might have gonadal mosaicism (GM), especially
regarding the fact that the previous twin pregnancy resulted in a miscarriage. Unfortunately…

[HTML][HTML] Trisomy 14 mosaicism including concomitant uniparental disomy: Population frequency, cytogenetic profile, sex ratio, maternal age and obstetric history

NV Kovaleva, PD Cotter - OBM Genetics, 2022 - lidsen.com
… Our finding that mosaicism for regular T14 dominates mosaicism due to unbalanced
translocation/… was reported in at least 12 of 80 families of gonadal mosaicism (see review [152]). …

[HTML][HTML] Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13. 2: a case report

DJ Wu, NJ Wang, J Driscoll, N Dorrani, D Liu… - Molecular …, 2009 - Springer
… ) chromosomes are almost exclusively maternally derived with the only known paternally
derived idic(15) chromosomes occurring in mosaictranslocation in the paternal germline. The …

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

C Le Caignec, M Boceno, P Saugier-Veber… - Journal of Medical …, 2005 - jmg.bmj.com
… , and mosaicism for a rearranged chromosome 18), the genomic imbalance identified clearly
… successfully used to detect somatic or germline chromosomal/genomic rearrangements. …

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X; Y translocation case

AVS Bispo, P Burégio-Frota… - Reproduction …, 2014 - CSIRO Publishing
… The rearrangement was unbalanced, comprising a partial monosomy of Xp22.3?2 including
… with gonadal malignancy. In the present study, hidden Y-chromosome mosaicism was …

[HTML][HTML] Next-generation sequencing analysis of embryos from mosaic patients undergoing in vitro fertilization and preimplantation genetic testing

K Luo, Y Lan, P Xie, F Gong, B Xiong, Y Tan, S Zhou… - Fertility and …, 2019 - Elsevier
… Chromosomal mosaicism involving unbalanced autosomal translocation and a normal
karyotype cell line (46,XX or 46,XY) is uncommon. Structural abnormalities of parental …

Microdeletion syndromes, balanced translocations, and gene mapping.

A Schinzel - Journal of medical genetics, 1988 - jmg.bmj.com
… However, in view of possible gonadal mosaicism, and according to the usual … Prader-Willi
syndrome in siblings due to unbalanced translocation between chromosomes

Constitutional chromosome abnormalities

K Kaiser‐Rogers - The AGT Cytogenetics Laboratory Manual, 2017 - Wiley Online Library
… cell line is also present in their gonads (germline or gonadal mosaicism), they are at risk …
unbalanced rearrangement as the child, rather than a partially cryptic balanced rearrangement, …