Molecular cytogenetic characterization of a mosaic small supernumerary marker chromosome derived from chromosome Y in an azoospermic male: A case report

Rationale: Small supernumerary marker chromosomes (sSMCs) can be usually discovered in the patients with mental retardation, infertile couples, and prenatal fetus. We aim to characterize the sSMC and explore the correlation between with sSMC and male infertility. Patient concerns: A 26-year-old Chinese male was referred for infertility consultation in our center after 1 year of regular unprotected coitus and no pregnancy. Diagnosis: Cytogenetic G-banding analysis initially described a mosaic karyotype 47,X,Yqh-,+mar[28]/46,X,Yqh-[22] for the proband, while his father showed a normal karyotype. The chromosome microarray (CMA) analysis showed there existed a duplication of Yp11.32q11.221, a deletion of Yq11.222q12, a duplication of 20p11.1 for the patient. Azoospermia factor (AZF) microdeletion analysis for the patient showed that he presented a de novo AZFb+c deletion. Fluorescence in situ hybridization further confirmed the sSMC was an sSMC(Y) with SRY signal, Y centromere, and Yq deletion. Interventions: The patient would choose artificial reproductive technology to get his offspring according to the genetic counseling. Outcomes: The sSMC in our patient was proved to be an sSMC(Y), derived from Yq deletion. The spermatogenesis failure of the proband might be due to the synthetic action of sSMC(Y) mosaicism and AZFb+c microdeletion. Lessons: It is nearly impossible to detect the chromosomal origin of sSMC through traditional banding techniques. The molecular ...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Related Links:

This study not only determined the primary reason for the atypical IBD epidemic, but also remind us of the urgency for developing new vaccines against novel variant IBDV.
Source: Veterinary Microbiology - Category: Veterinary Research Source Type: research
Publication date: Available online 15 November 2019Source: Veterinary MicrobiologyAuthor(s): Xian-Wei Wang, Mi Wang, Jing Zhan, Qian-Yu Liu, Lin-lin Fang, Chen-yao Zhao, Ping Jiang, Yu-Feng Li, Juan BaiAbstractSince late 2010, highly virulent PEDV G2-genotype strains have emerged globally extracting heavy losses on the pork industries of numerous countries. We investigated the characteristics of a field strain of PEDV (PEDV strain SH) isolated from a piglet with severe diarrhea on a farm in Shanghai China. Whole genome sequencing and analysis revealed that the SH strain belonged to subtype G2a and has a unique 12-aa deleti...
Source: Veterinary Microbiology - Category: Veterinary Research Source Type: research
Authors: Kuck KH, Phan HL, Tilz RR Abstract The new guidelines for the management of supraventricular tachycardia (SVT) were published by the European Society of Cardiology (ESC) in September 2019. The key message of the guidelines is that catheter ablation should be offered as a first line treatment to most patients during a comprehensive discussion of the risks and advantages. This recommendation recognizes that catheter ablation has nowadays become a widely established, effective and safe treatment method with a very low complication rate, which has revolutionized the treatment of SVT due to the substa...
Source: Herz - Category: Cardiology Tags: Herz Source Type: research
Conclusion: Men with AZF microdeletions can achieve the delivery of healthy children using ICSI. In this series, it produced good implantation rate and obstetric and perinatal outcomes.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Trial/Experimental Study Source Type: research
Rationale: Y;autosome translocations are associated with male infertility and azoospermia. Some carriers with a Y:22 translocation can produce offspring and transmit the translocation through generations without phenotypic repercussion. Hence, the clinical features of carriers with certain Y chromosome abnormalities remain uncertain. Patient concerns: An apparently healthy 33-year-old man, 175 cm tall and weighing 60 kg had a 6-month history of primary infertility. Diagnoses: The patient was diagnosed with oligoasthenozoospermia. A series of examinations have been performed to evaluate possible genetic causes o...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Summary Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance, testis size and volume, external genitalia, spermogram and hormonal levels, testis pathology, Y chromosome microdeletion ...
Source: Andrologia - Category: Urology & Nephrology Authors: Tags: CASE REPORT Source Type: research
Abstract IntroductionTesticular microdissection sperm extraction (MD‐TESE) combined with intracytoplasmic sperm injection (ICSI) has made biological fatherhood possible for many men with the most severe form of male infertility, non‐obstructive azoospermia. MD‐TESE was introduced in Turku in 2008, and by 2015, 100 Finnish men with non‐obstructive azoospermia have been operated on. Material and methodsThe average age of the men was 33 years at the time of surgery. Forty‐eight had a needle biopsy previously and 56% had a testicular size
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: Original Research Article Source Type: research
ConclusionsOur SRR is comparable with international results, and cumulative live birth rate similar to other ICSI indications in Finland. Physicians and specialists need to be made aware of new treatment options to enable biological fatherhood for men with non‐obstructive azoospermia.This article is protected by copyright. All rights reserved.
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: Original Research Article Source Type: research
CONCLUSIONS: The sperm retrieval rate and clinical pregnancy rate per initiated cycle in men undergoing in-vitro fertilisation and testicular sperm extraction in our unit were 44.9% and 13.5%, respectively. No sperms could be retrieved in the presence of AZFa and AZFb microdeletions, but karyotype and AZFc microdeletion abnormalities otherwise did not predict the success of sperm retrieval in couples undergoing in-vitro fertilisation and testicular sperm extraction. Genetic tests are important prior to testicular sperm extraction for patient selection and genetic counselling. PMID: 27687508 [PubMed - as supplied by publisher]
Source: Hong Kong Medical Journal - Category: Journals (General) Tags: Hong Kong Med J Source Type: research
Summary We investigated whether the presence of Y chromosome azoospermia factor (AZF) microdeletions impacts upon the outcomes of intracytoplasmic sperm injection (ICSI) using fresh ejaculated spermatozoa. Sixteen oligozoospermia patients with Y chromosome AZFb or AZFc microdeletions and undergoing ICSI cycles between March 2013 and November 2014 were studied. Twenty‐six infertile men with normal Y chromosomes and also undergoing IVF/ICSI in the same time period were used as controls. A retrospective case–control study approach was used. Among the 16 cases, 12 (75%, 12/16) had deletions of AZFc markers (sY152, sY25...
Source: Andrologia - Category: Urology & Nephrology Authors: Tags: Original Article Source Type: research
More News: Azoospermia | China Health | Genetics | Infertility | Internal Medicine | Lessons | Men | Microdeletion Syndromes | Pregnancy | Reproduction Medicine