Mosaicism with a normal cell line and an unbalanced structural rearrangement

AL Zaslav, S Fallet, D Blumenthal… - American journal of …, 1999 - Wiley Online Library
… subsequent segregation would result in the normal and the unbalanced cell lines (Fig. 4).
The … with a mosaic normal/unbalanced autosomal structural rearrangement resulting in partial …

On the road to replacing invasive testing with cell‐based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or …

EM Vestergaard, R Singh, P Schelde, L Hatt… - Prenatal …, 2017 - Wiley Online Library
… , karyotype on CVS, and cfNIPT results in a series of fetuses presenting with aneuploidies,
microduplication, and unbalanced structural rearrangement in first trimester pregnancies …

Mutation rates of structural chromosome rearrangements in man.

PA Jacobs - American journal of human genetics, 1981 - ncbi.nlm.nih.gov
rearrangements, 3.54 X 10-4 for unbalanced Robertsonian translocations, and 3.42 X 10-4
for unbalanced non-Robertsonian rearrangementsstructural chromosome rearrangements of …

DNA fragmentation is higher in spermatozoa with chromosomally unbalanced content in men with a structural chromosomal rearrangement

A Perrin, MH Nguyen, L Bujan, F Vialard, V Amice… - …, 2013 - Wiley Online Library
… We report here a study in which spermatozoa with chromosomally unbalanced content
arising from a structural chromosomal rearrangement were shown to be more likely to have …

A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses

A Boue, P Gallano - Prenatal diagnosis, 1984 - Wiley Online Library
… of unbalanced infants is not related to the sex of the carrier. When the inherited structural
rearrangement was … the number of paternal or maternal balanced rearrangements did not differ. …

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

NS Thomas, M Durkie, B Van Zyl, R Sanford, G Potts… - Human genetics, 2006 - Springer
… It appears from our data that the parental origins of structural rearrangements and the
chromosomal origins are independent. Thus, while the rate of errors is higher in spermatogenesis, …

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
… (N/Rea; normal line/structural rearrangement) in which the sex of … Among unbalanced Rea,
deletions were the most frequent (… Eight of eleven (73 %) affected carriers of unbalanced Rea …

Mechanisms of structural chromosomal rearrangement formation

B Burssed, M Zamariolli, FT Bellucco… - Molecular …, 2022 - Springer
… Next generation sequencing (NGS) techniques are used to detect unbalanced and also
balanced structural alterations [11, 12]. These techniques are commonly used alongside …

Catastrophic unbalanced genome rearrangements cause somatic loss of berry color in grapevine

P Carbonell-Bejerano, C Royo, R Torres-Pérez… - Plant …, 2017 - academic.oup.com
… genome rearrangements arise spontaneously and stabilize during plant somatic growth. These
dramatic rearrangements … DNA structural rearrangement graph and predicted rearranged

Structural unbalanced chromosome rearrangements resolved by comparative genomic hybridization

M Daniely, G Barkai, B Goldman… - Cytogenetics and cell …, 1999 - karger.com
… of unbalanced structural chromosome rearrangements using … unbalanced structural
chromosome abnormalities. CGH provided essential information on the nature of the unbalanced