[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. …
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 rearrangements … gonadal mosaicism …
carriers, in contrast to carriers of mosaicism for balanced rearrangements … gonadal 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, …
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 …
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 rearrangements … chromosomes are not more likely than short chromosomes to …
unbalanced rearrangements … chromosomes 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 …
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
… 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 …
… 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 …
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 …
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 …
an abnormal phenotype of the carrier and will usually only be recognized after two siblings are …
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- female predominance unbalanced rearrangements
- balanced reciprocal translocation mosaicism
- unbalanced structural rearrangement
- cryptic unbalanced autosomal reciprocal translocation
- translocation mosaicism multiple miscarriages
- carriers of chromosome rearrangements unbalanced progeny
- structural rearrangements submicroscopic chromosomal imbalances
- translocation mosaicism abnormal phenotype
- structural chromosome rearrangement hidden mosaicism
- translocation mosaicism reproductive implications
- translocation mosaicism familial transmission
- translocation mosaicism two new cases
- translocation mosaicism clinical implications
- translocation mosaicism literature review
- female predominance gonadal mosaicism