Telomeric fusion and chromosome instability in multiple tissues of a patient with mosaic Ullrich‐Turner syndrome
JR Sawyer, CM Swanson, JL Lukacs… - American journal of …, 1997 - Wiley Online Library
… chromosomes originating from telomeric fusions tend to pull apart during mitosis and can
result in deletions and unbalanced … The chromosomal imbalance present in the gonadal tissue …
result in deletions and unbalanced … The chromosomal imbalance present in the gonadal tissue …
[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 …
karyotype cell line (46,XX or 46,XY) is uncommon. Structural abnormalities of parental …
[PDF][PDF] Mosaicism in Clinical Genetics: Counselling Challenges and Diagnostic Dilemmas
H Sait - researchgate.net
… should include the affected chromosomes, mosaicism levels, mosaic tissues involved, … if
their gonadal tissue is also affected. On the other hand, pure germline mosaicism is typically …
their gonadal tissue is also affected. On the other hand, pure germline mosaicism is typically …
SEX RATIO IN EPIDEMIOLOGY OF HUMAN CHROMOSOME ABNORMALITIES: AN UNDERAPPRECIATED TOOL FOOR RECOGNITION AND EXAMINATION OF …
NV Kovaleva - VII Съезд Вавиловского общества генетиков и …, 2019 - elibrary.ru
… u Female predominance among carriers of gonadal mosaicism for regular trisomies was …
carriers of gonadal/somatic mosaicism for noncentromeric unbalanced rearrangement, but …
carriers of gonadal/somatic mosaicism for noncentromeric unbalanced rearrangement, but …
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]). …
translocation/… was reported in at least 12 of 80 families of gonadal mosaicism (see review [152]). …
Cytogenetic profiles of a large cohort of patients with sexual developmental disorders; A 22-year single-center experience
O Demirhan - 2023 - researchsquare.com
… One of our male patients with AG had gonadal cancer. It is … and miscarriage due to unbalanced
gamete formation. The … cells have XX chromosomes and some have XY chromosomes. …
gamete formation. The … cells have XX chromosomes and some have XY chromosomes. …
Preimplantation Genetic Diagnosis of Chromosome Abnormalities: Specific Chromosomal Rearrangements and Age‐Related Aneuploidy
J Delhanty, C Conn - Preimplantation genetic diagnosis, 2001 - Wiley Online Library
… that predisposes to the production of chromosomally unbalanced gametes, as … low level
mosaicism in any tissue is probably missed and for this reason gonadal mosaicism can usually …
mosaicism in any tissue is probably missed and for this reason gonadal mosaicism can usually …
Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies: prenatal diagnosis by amniocentesis
CP Chen, SR Chern, FJ Tsai, PC Wu, SS Chiang… - Taiwanese Journal of …, 2009 - Elsevier
… Gonadal mosaicism for a Robertsonian translocation: a search for the best reproductive
options for a couple with five spontaneous abortions. Am J Hum Genet 1998;63(Suppl):A156. 18…
options for a couple with five spontaneous abortions. Am J Hum Genet 1998;63(Suppl):A156. 18…
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita
MCJ Jongmans, ETP Verwiel, Y Heijdra… - The American Journal of …, 2012 - cell.com
… In this study, we included 17 individuals who had a germline TERC mutation, who did not
develop bone-marrow failure, and who thus did not undergo an allogeneic stem-cell …
develop bone-marrow failure, and who thus did not undergo an allogeneic stem-cell …
Two families with sibling recurrence of the 17q21. 31 microdeletion syndrome due to low-grade mosaicism
DA Koolen, J Dupont, N De Leeuw… - European journal of …, 2012 - nature.com
… rearrangement involving 17q21.31. Numerous examples have indicated the importance of
fully unravelling the nature of rearrangements, … low-level somatic–gonadal mosaicism in both …
fully unravelling the nature of rearrangements, … low-level somatic–gonadal mosaicism in both …