Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements
NV Kovaleva, PD Cotter - Molecular Cytogenetics, 2016 - Springer
Background Mosaicism for chromosomal structural rearrangements (Rea) is rare and the
timing and mechanisms of mosaic Rea formation, maintenance, and clinical manifestation …
timing and mechanisms of mosaic Rea formation, maintenance, and clinical manifestation …
Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age …
NV Kovaleva, PD Cotter - Molecular Cytogenetics, 2017 - Springer
Background Mosaicism for an autosomal structural rearrangement (Rea) associated with
clinical manifestation of chromosomal imbalance is rare. Consequently, there is a lack of …
clinical manifestation of chromosomal imbalance is rare. Consequently, there is a lack of …
Mosaicism for structural non-centromeric autosomal rearrangement in prenatal diagnoses: evidence for sex-specific selection against chromosomal abnormalities
NV Kovaleva, PD Cotter - Molecular cytogenetics, 2017 - Springer
Background Mosaicism for chromosome rearrangements is common in preimplantation
diagnoses, yet is rare in prenatal diagnoses as well as in other groups of patients referred to …
diagnoses, yet is rare in prenatal diagnoses as well as in other groups of patients referred to …
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
The main mechanism proposed for formation of homologous translocations/
isochromosomes is mitotic and if this occurs in a chromosomally normal conceptus …
isochromosomes is mitotic and if this occurs in a chromosomally normal conceptus …
Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility
A Lebbar, P Callier, F Baverel, N Marle… - American Journal of …, 2008 - Wiley Online Library
Structural chromosomal abnormalities can be associated with infertility through meiosis
impairment or the formation of unbalanced gametes. Among these structural abnormalities …
impairment or the formation of unbalanced gametes. Among these structural abnormalities …
[HTML][HTML] Hidden mosaicism for a structural chromosome rearrangement: a rare explanation for recurrent miscarriages and affected offspring?
KH Kouru, H Malmgren, I White, E Blennow - Fertility and sterility, 2011 - Elsevier
We found maternal mosaicism for an unbalanced chromosome rearrangement in a woman
with recurrent chromosome rearrangements in the offspring. Hidden mosaicism may be a …
with recurrent chromosome rearrangements in the offspring. Hidden mosaicism may be a …
Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories
A Daniel, EB Hook, G Wulf - American journal of medical …, 1989 - Wiley Online Library
Abstract Data on 1,237 prenatal (amniocyte) diagnoses in cases of familial chromosome
rearrangements were collated from 79 American and Canadian laboratories. These were …
rearrangements were collated from 79 American and Canadian laboratories. These were …
Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes
EC Gadow, S Lippold, L Otano… - American journal of …, 1991 - Wiley Online Library
Abstract During the years 1975–1987, 1,364 cytogenetic studies were performed in 682
couples with history of adverse pregnancy outcome. Thirty‐six balanced translocations were …
couples with history of adverse pregnancy outcome. Thirty‐six balanced translocations were …
Balanced reciprocal translocation mosaicism: new cases and a literature review
SA Farrell - American journal of medical genetics, 1991 - Wiley Online Library
Mosaicism for a balanced reciprocal translocation is uncommon. These two new cases were
detected during investigation of infertility and miscarriages. Otherwise, the probands were …
detected during investigation of infertility and miscarriages. Otherwise, the probands were …
Balanced reciprocal translocation mosaicism associated with an abnormal phenotype
DJ Aughton, AA AlSaadi, AI Canady… - American journal of …, 1993 - Wiley Online Library
Balanced reciprocal translocation mosaicism is rarely reported in humans. Only two
previous cases have been associated with an abnormal phenotype. We report on a third …
previous cases have been associated with an abnormal phenotype. We report on a third …
相关搜索
- gonadal mosaicism unbalanced rearrangements
- gonadal mosaicism female predominance
- hidden mosaicism chromosome rearrangement
- abnormal phenotype translocation mosaicism
- hidden mosaicism rare explanation
- hidden mosaicism affected offspring
- hidden mosaicism recurrent miscarriages
- female predominance unbalanced rearrangements
- unbalanced progeny chromosome rearrangements
- secondary infertility chromosome rearrangements