[HTML][HTML] … /gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements

NV Kovaleva, PD Cotter - Molecular Cytogenetics, 2016 - Springer
imbalance. A strong female prevalence among carriers of mosaicism for unbalanced Rea …
patients referred after a diagnosis of mosaicism for an unbalanced rearrangement in a fetus. …

[HTML][HTML] Mosaicism for structural non-centromeric autosomal rearrangement in prenatal diagnoses: evidence for sex-specific selection against chromosomal …

NV Kovaleva, PD Cotter - Molecular cytogenetics, 2017 - Springer
… of mosaicism for unbalanced Rea is a strong prevalence of females among asymptomatic
carriers, in contrast to carriers of mosaicism for balanced rearrangementsgonadal mosaicism

[HTML][HTML] Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal …

NV Kovaleva, PD Cotter - Molecular Cytogenetics, 2017 - Springer
mosaicism may be asymptomatic or may present with a variable phenotype. A recent study of
patients with somatic/gonadal mosaicism … somatic/gonadal mosaicism for unbalanced Rea, …

Mosaicism with a normal cell line and an autosomal structural rearrangement.

RJ Gardner, HE Dockery, PH Fitzgerald… - Journal of medical …, 1994 - jmg.bmj.com
… We take her to be a somatic-gonadal mosaic. Thiscase is to be the subject of a detailed …
3 with renal mosaicism) comprise eight cases with an unbalanced and three with a balanced …

[HTML][HTML] Factors affecting clinical manifestation of chromosomal imbalance in carriers of segmental autosomal mosaicism: differential impact of gender

NV Kovaleva, PD Cotter - Journal of Applied Genetics, 2022 - Springer
… presumably due to gonadal mosaicism; 130 prenatally … large chromosomes in mosaic
unbalanced rearrangementschromosomes are not more likely than short chromosomes to …

Recurrence risk in de novo structural chromosomal rearrangements

B Röthlisberger, D Kotzot - … Journal of Medical Genetics Part A, 2007 - Wiley Online Library
… with a de novo unbalanced chromosomal rearrangement, this … Generally germline mosaicism
is expected to be more likely … Surprisingly, our data show germline mosaicism more often in …

Uniparental disomy in somatic mosaicism 45, X/46, XY/46, XX associated with ambiguous genitalia

A Serra, F Denzer, O Hiort, TF Barth… - Sexual …, 2015 - karger.com
… presence of a somatic mosaicism with unbalanced gonosome dosage of unknown genealogy.
… B Amplification of the X and Y chromosomes from blood and gonad samples of the patient …

Mosaicism for an unbalanced Y; 21 translocation in an infertile man: a case report

A Röpke, Y Stratis, D Dossow-Scheele… - Journal of assisted …, 2013 - Springer
… level revealed a mosaicism of 10 metaphases with an unbalanced Y;21 translocation der(Y)t(…
metaphases each confirmed the mosaicism for the unbalanced translocation. The aberrant …

Nonmosaic balanced homologous translocations of major clinical significance: some may be mosaic

NV Kovaleva - American Journal of Medical Genetics Part A, 2007 - Wiley Online Library
… of gonadal mosaicism for homologous REA (N/REA) among parents of unbalanced
offspring is likely … We propose that the main mechanism of homologous translocation/isochromosome …

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

ACJ Gijsbers, JG Dauwerse, CAJ Bosch… - European journal of …, 2011 - Elsevier
… Abnormality involving only a part of the gonad (gonadal mosaicism) is not associated with
an abnormal phenotype of the carrier and will usually only be recognized after two siblings are …