Infertility patients with chromosome inversions are susceptible to an inter-chromosomal effect

Klepacka, D.; Young, D.; Brzeskiewicz, L.; Schoolcraft, William B.; Katz‐Jaffe, Mandy G.

doi:10.1016/j.fertnstert.2014.07.258

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“…A genetic abnormality in cases of male infertility has been revealed in 10–15% of couples who have tried to conceive; approximately half of the abnormalities are due to a “male factor” [ 8 ]. Nonetheless, in many cases, severe male infertility has a genetic cause including chromosomal aberrations (according to various studies: 4.3% to 9.6% of cases) [ 9 , 10 , 11 ]. In our work, GTG-banding; different fluorescence in situ hybridization (FISH) techniques, including chromosome microdissection with reverse painting; multicolor banding; aCGH; and single-copy inverted chromosome sequencing were applied for comprehensive breakpoints mapping.…”

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confidence: 99%

The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing

et al. 2022

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Detection and precise genomic mapping of balanced chromosomal abnormalities in patients with impaired fertility or a clinical phenotype represent a challenge for current cytogenomics owing to difficulties with precise breakpoint localization in the regions enriched for DNA repeats and high genomic variation in such regions. Here, we present a comprehensive cytogenomic approach to breakpoint mapping in a rare paracentric inversion on 10q (in a patient with oligoasthenoteratozoospermia and necrozoospermia) that does not affect other phenotype traits. Multicolor banding, chromosomal microarray analysis, chromosome microdissection with reverse painting, and single-copy sequencing of the rearranged chromosome were performed to determine the length and position of the inverted region as well as to rule out a genetic imbalance at the breakpoints. As a result, a paracentric 19.251 Mbp inversion at 10q22.2q23.3 was described. The most probable location of the breakpoints was predicted using the hg38 assembly. The problems of genetic counseling associated with enrichment for repeats and high DNA variability of usual breakpoint regions were discussed. Possible approaches for cytogenomic assessment of couples with balanced chromosome rearrangements and problems like reproductive failures were considered and suggested as useful part of effective genetic counseling.

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