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Karyotype of the case was found to include chromosome 45,X,der(Y;22).
Source publication
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 conc...
Contexts in source publication
Context 1
... analysis showed that the patient had unbalanced Y-22 chromosome translocations, although the exact position of breakpoints was unclear. With informed consent, the patient's parents refused to undergo cytogenetic investigations. Male patients suggested the presence of the SRY gene. Hence, we assumed that the karyotype was 45,X,der(Y;22) (Fig. 1) ...
Context 2
... In present study, our case showed normal hormone levels and male phenotype, except for slightly smaller testicular size, suggesting the Yp region is not missing. From the karyotype shown in Figure 1, we speculated that the short arm of the Yp region combined with the short arm of chromosome 22. The AZF, located on Yq11, is essential for spermatogenesis and may be affected secondary to a microdeletion or complete loss resulting from translocation. ...
Context 3
... analysis showed that the patient had unbalanced Y-22 chromosome translocations, although the exact position of breakpoints was unclear. With informed consent, the patient's parents refused to undergo cytogenetic investigations. Male patients suggested the presence of the SRY gene. Hence, we assumed that the karyotype was 45,X,der(Y;22) (Fig. 1) ...
Context 4
... In present study, our case showed normal hormone levels and male phenotype, except for slightly smaller testicular size, suggesting the Yp region is not missing. From the karyotype shown in Figure 1, we speculated that the short arm of the Yp region combined with the short arm of chromosome 22. The AZF, located on Yq11, is essential for spermatogenesis and may be affected secondary to a microdeletion or complete loss resulting from translocation. ...
Similar publications
Introduction:
The infertile male individuals carrying the Y-autosome translocations are seldom reported in clinic. Herein, we described a severe oligozoospermic male with rare unbalanced Y;3 translocation transmitted through 3 generations.
Patient concerns:
A 33-year-old Chinese male was referred for infertility consultation in our center after...
Citations
... Non-robertsonian pseudodicentric chromosomes have been associated with several developmental syndromes, and with various impacts on fertility [Barra and Fachinetti, 2018]. Rare forms of Y-autosome translocations leading to 45-chromosome karyotypes with a pseudodicentric (Y;acrocentric) have been reported in families with fertile male carriers [Wimmer et al., 2006;Morales et al., 2007] but also in oligoasthenozoospermia [Jia et al., 2019]. Recently a pseudodicentric (9;21) [Beaumont et al., 2019] and a dicentric chromosome with centromeric fusion dic(9;13) have been associ-ated with oligo-and azoospermia, respectively [Wiland et al., 2014]. ...
Genetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies are validated genetic factors leading to spermatogenic quantitative defects, with a frequency depending on the severity of the phenotype. Among the structural chromosomal rearrangements, dicentric chromosomes are generally observed in robertsonian translocations or in cases of Y chromosome isodicentrics. In X-autosome translocations, male carriers are generally infertile, regardless of the position of the breakpoint, due to interrupted spermatogenesis. We report an infertile man bearing an unusual balanced (X;22) translocation, with a centromeric X breakpoint generating a derivative pseudodicentric chromosome psu dic(22;X). Extensive cytogenetic analyses were necessary to determine the precise nature of the derivative chromosome. The likely cause of the reproductive phenotype of the patient is discussed based on meiotic chromosomal conformation.
... In azoospermic males which affects 1% of the male population, chromosomal abnormalities involving X and Y chromosomes range from 10 to 15% (18). Males with 45, X karyotype due to Y-autosome (Y; A) translocations with unbalanced chromosomal abnormality usually involves the translocation of the Y chromosome containing the SRY gene onto the short arm of an acrocentric chromosome (chromosome 13, 14, 15, 21 and 22) (19,20). However, non-acrocentric chromosome translocation has also been observed (21). ...
Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region.
Case report: A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15.
Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region.
... 7,8 Previous studies were mainly based on G-banding analysis, 2 which could not determine detailed structures. 5 Therefore, some unique chromosomal abnormalities require further identification of breakpoints or detailed structures. Here, we describe a male carrier with a unique (Y; 14) translocation, including his molecular cytogenetic characteristics. ...
Background
Chromosome translocation is a genetic factor associated with male infertility. However, cases of Y chromosome/autosome translocation are rare. Individuals with translocation between the Y chromosome and an autosome have a variety of different clinical phenotypes. There is a need for further study of molecular cytogenetic feature of those with Y chromosome translocation.
Methods
We reported that an apparently healthy 31‐year‐old man, 168 cm tall and weighing 65 kg, had a 2‐year history of primary infertility after marriage. Clinical diagnostic techniques included semen analysis, hormone measurements, cytogenetic analysis, fluorescence in situ hybridization (FISH), and high‐throughput multiplex ligation‐dependent probe amplification semiconductor sequencing. Detailed genetic counseling was provided to the patient. Intracytoplasmic sperm injection treatment combined with preimplantation genetic diagnosis was chosen with the aim of achieving a successful pregnancy.
Results
Semen analysis revealed cryptozoospermia. Hormone levels were within the normal limits. Sequencing results indicated the presence of the sex‐determining region on Yp, and AZFa, AZFb, and AZFc regions on Yq. The patient's karyotype was 45,X,psu,dic(Y;14)(p11.3;q11.2), which was confirmed by cytogenetic analysis and FISH.
Conclusion
This study reports a case of cryptozoospermia in a male patient with a Y;14 chromosomal translocation. When clinical karyotyping has revealed potential Y chromosome abnormality, FISH or molecular detection should be further performed to facilitate identification of the chromosomal breakpoint.
... Conventional cytogenetic analysis was performed from bone marrow obtained by biopsy and peripheral leucocytes according to protocols previously described. [9,10] In parallel, we initiated molecular analysis for FLT3 (ITD and D835), NPM1 c.863_864ins, and DNMT3A R882 mutations by using different polymerase chain reaction (PCR) methods (PCR, amplification refractory mutation system polymerase chain reaction, restriction fragment length polymorphism, and fragment analysis), as previously reported. [9] In the second day, we performed MLPA analysis using 3 different kits (SALSA MLPA P036, P070, P377, MRC-HOLLAND) and LD-RT PCR to detect 57 specific acute leukemia gene fusions according to the protocol previously described (capillary sequencing was performed to sequence the amplicon). ...
Rationale:
Co-occurrence of cytogenetic and molecular abnormalities is frequently seen in patients with acute myeloid leukemia (AML). The clinical outcome and genetic abnormalities of AML may vary; therefore, genetic investigation must be complex, using several techniques, to have an appropriate characterization of the AML genome and its clinical impact. The available molecular markers can predict prognosis only partially. Acute promyelocytic leukemia subtype M3 (AML M3) is a subtype of AML characterized by the presence of promyelocytic leukemia-retinoic acid receptor alpha (PML-RARA) genes fusion. Targeted treatment with all-trans-retinoic acid (ATRA) and ATRA combined with arsenic trioxide significantly improved the survival of AML M3 patients. Unknown prognostic factors could contribute to the early death of these patients.
Patient concerns:
We present the case of a young female (20 years old) patient, who presented at the emergency department 5 months after giving birth to her first child, complaining of asthenia, fatigue, general musculoskeletal pain, and fever (38°C), symptoms having been present for the previous 6 days. The patient denied any chronic diseases in her medical and family history.
Diagnosis:
Laboratory analysis revealed severe pancytopenia. Cytogenetic and molecular analyzes revealed chromosomal abnormalities (trisomy 8), PML-RARA gene fusion, and fms-like tyrosine kinase 3 (FLT3) gene mutation. The immunophenotypic analysis was also suggestive for AML M3 according to the FAB classification.
Interventions:
Specific treatment was initiated for AML M3 and for secondary conditions. Molecular and cytogenetic analyzes were performed to have a more detailed characterization of the patient's genome.
Outcome:
Seventy-two hours after admission, she developed psychomotor agitation, confusion, coma, and convulsion. Subsequent deterioration and early death were caused by intracerebral hemorrhage with multiple localization and diffuse cerebral edema.
Lessons:
The presence of FLT3 internal tandem duplication (ITD) mutation may explain the rapid and progressive degradation of this AML M3 case and it may be used as a prognostic marker even when co-occuring with other markers such as PML-RARA gene fusion and trisomy 8. We consider that FLT3 ITD mutation analysis in young patients with AML should be performed as soon as possible. New strategies for patients' education, AML (or cancers in general) prevention, and treatment are needed.
