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Open AccessArticle

Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers—Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR):  Molecular Cytogenetic Analysis

1
Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland
2
Department of Clinical Science, University of Bergen, Postboks 7804, 5020 Bergen, Norway
3
Department of OBGYN and Reproductive Science, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA 15213, USA
4
Institute of Hereditary Pathology, Ukrainian Academy of Medical Sciences, Lysenko Str. 31a, 79000 Lviv, Ukraine
5
Department of Biotechnology and Bioinformatics, Faculty of Chemistry, Rzeszow University of Technology, Al. Powst. Warszawy 6, 35-959 Rzeszow, Poland
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(12), 4559; https://doi.org/10.3390/ijms21124559
Received: 2 June 2020 / Revised: 23 June 2020 / Accepted: 24 June 2020 / Published: 26 June 2020
(This article belongs to the Collection Feature Papers in Molecular Genetics and Genomics)
Structural aberrations involving more than two breakpoints on two or more chromosomes are known as complex chromosomal rearrangements (CCRs). They can reduce fertility through gametogenesis arrest developed due to disrupted chromosomal pairing in the pachytene stage. We present a familial case of two infertile brothers (with azoospermia and cryptozoospermia) and their mother, carriers of an exceptional type of CCR involving chromosomes 1 and 7 and three breakpoints. The aim was to identify whether meiotic disruption was caused by CCR and/or genomic mutations. Additionally, we performed a literature survey for male CCR carriers with reproductive failures. The characterization of the CCR chromosomes and potential genomic aberrations was performed using: G-banding using trypsin and Giemsa staining (GTG banding), fluorescent in situ hybridization (FISH) (including multicolor FISH (mFISH) and bacterial artificial chromosome (BAC)-FISH), and genome-wide array comparative genomic hybridization (aCGH). The CCR description was established as: der(1)(1qter->1q42.3::1p21->1q42.3::7p14.3->7pter), der(7)(1pter->1p2 1::7p14.3->7qter). aCGH revealed three rare genes variants: ASMT, GARNL3, and SESTD1, which were ruled out due to unlikely biological functions. The aCGH analysis of three breakpoint CCR regions did not reveal copy number variations (CNVs) with biologically plausible genes. Synaptonemal complex evaluation (brother-1; spermatocytes II/oligobiopsy; the silver staining technique) showed incomplete conjugation of the chromosomes. Associations between CCR and the sex chromosomes (by FISH) were not found. A meiotic segregation pattern (brother-2; ejaculated spermatozoa; FISH) revealed 29.21% genetically normal/balanced spermatozoa. The aCGH analysis could not detect smaller intergenic CNVs of few kb or smaller (indels of single exons or few nucleotides). Since chromosomal aberrations frequently do not affect the phenotype of the carrier, in contrast to the negative influence on spermatogenesis, there is an obvious need for genomic sequencing to investigate the point mutations that may be responsible for the differences between the azoospermic and cryptozoospermic phenotypes observed in a family. Progeny from the same parents provide a unique opportunity to discover a novel genomic background of male infertility. View Full-Text
Keywords: azoospermia; cryptozoospermia; complex chromosomal rearrangement; chromosome translocation; sperm chromosomes; male infertility; male meiosis azoospermia; cryptozoospermia; complex chromosomal rearrangement; chromosome translocation; sperm chromosomes; male infertility; male meiosis
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Olszewska, M.; Stokowy, T.; Pollock, N.; Huleyuk, N.; Georgiadis, A.; Yatsenko, S.; Zastavna, D.; Yatsenko, A.N.; Kurpisz, M. Familial Infertility (Azoospermia and Cryptozoospermia) in Two Brothers—Carriers of t(1;7) Complex Chromosomal Rearrangement (CCR):  Molecular Cytogenetic Analysis. Int. J. Mol. Sci. 2020, 21, 4559.

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