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 …

Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18

T Eggermann, H Engels, C Heidrich-Kaul, I Moderau… - Human genetics, 1997 - Springer
We report a patient with a de novo translocation 13/18, identified by high-resolution banding.
The breakpoints were ascertained by fluorescence in situ hybridisation with whole …

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14′, 15, and 21 leading to balanced and unbalanced rearrangements in …

A Soler, A Sánchez, A Carrió… - American Journal of …, 2005 - Wiley Online Library
We report an unusual case of a familial complex chromosome rearrangement (CCR),
ascertained through prenatal diagnosis. The fetus carried an apparently balanced CCR with …

Prenatally diagnosed balanced chromosome rearrangements: eight years' experience.

HH Peng, AS Chao, TH Wang, YL Chang… - The Journal of …, 2006 - europepmc.org
Objective To investigate the incidence and pregnancy outcome of prenatally diagnosed
balanced chromosome rearrangements from amniocentesis. Study design Between January …

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 …

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 …

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 …

[引用][C] Abnormal phenotype in a child with a “balanced” translocation 8/12 in mosaic state

R Saura, M Longy, F Serville, O Chokairi… - American Journal of …, 1987 - Wiley Online Library
In a recent issue of your journal, Fryns and Kleczkowska [1986] emphasize, about the report
of Sciorra et al [1986], that mosaic “balanced” reciprocal translocations are rare. They report …

Sex‐specific chromosome instability in early human development

NV Kovaleva - American Journal of Medical Genetics Part A, 2005 - Wiley Online Library
The predominance of females segregating chromosome aberrations to their offspring has
been explained mostly by selection disadvantage of unbalanced products of …

A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities

AE Cockwell, PA Jacobs, SJ Beal, JA Crolla - Human genetics, 2003 - Springer
Fifty chromosomally normal couples with three or more miscarriages were examined using
fluorescent in situ hybridisation (FISH) and a library of subtelomere-specific probes together …