Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility.

Background: Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the additional Y chromosome may cause disrupted meiosis leading to sperm apoptosis. The purpose of the current study was to determine whether XYY men are over-represented in infertility cohorts. Methods: In this paper, an ongoing infertility cohort was evaluated for Y chromosome microdeletions using the MLPA technique and the data from the first 2000 referrals were recorded. Moreover, the MLPA technique detected 47,XYY karyotypes. Results: Four XYY individuals were identified within the cohort. One of the four XYY men was shown to have an apparent gr/gr partial AZFc deletion on both Y chromosomes while Sertoli cell only syndrome was detected in another case. The other two cases (out of 2000) might, therefore, represent an incidental finding. Conclusion: The gr/gr deletion is not detectable by the multiplex PCR method; therefore, there might be additional explanations for the fertility problems of infertile XYY men reported in previously published articles. It seems that among other cases, their XYY karyotype may be coincidental, rather than causative of their fertility issues.

Esthesioneuroblastoma in a boy with 47, XYY karyotype.

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior.

Esthesioneuroblastoma in a boy with 47, XYY karyotype / 소아과

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior.

Síndrome 47, XYY / 47, XYY Syndrome

A síndrome XYY é definida como uma aneuploidia de cromossomos sexuais, a qual o indivíduo recebe um cromossomo Y extra, apresentando cariótipo 47,XYY. A síndrome apresenta como características principais alta estatura na primeira infância, atraso na fala, dificuldade de leitura e concentração. A maioria dos homens XYY é fértil e não apresenta manifestações clínicas significativas e permanece sem diagnóstico O objetivo do presente trabalho é relatar o caso de um paciente de 12 anos afetado pela Síndrome 47,XYY.

XYY syndrome is defined as a sex chromosome aneuploidy, in which the individual receives an extra Y chromosome, presenting karyotype 47,XXY. The main features of the syndrome are tall stature in early childhood, delayed speech, and difficulty reading and concentrating. Most XYY males are fertile, show no significant clinical symptoms and remain undiagnosed. The aim of this study is to report the case of a 12-year-old patient affected by 47, XYY syndrome.

Application of WHO standards in diagnose and classification of MDS / 白血病·淋巴瘤

ObjectiveTo diagnose and classify 249 patients with myelodysplastic syndrome (MDS) according to the WHO standards.MethodsAccording to the WHO standards,cell morphology,cytogenetics,immune phenotype and bone marrow pathologic biopsy in 249 cases of MDS were analyzed.ResultsGreat shape and oval cell of mature erythrocyte could be observed in all MDS patients peripheral blood. The incidence of immature erythrocyte,immature granulocyte,pelger-like abnormal nucleus and neutrophils cells without granular increased with subtypes progressing.These abnormal characteristics and proportion tended to more apparent with MDS subtypes progressing.With the dynamic follow-up,we found the rate of MDS transition to AL increased with subtypes progressing(P＜0.05 ).The immune phenotype analysis of 148 patients was undertook and found that the trend to express myeloid specific antigen (CD33) increased gradually with subtypes progressing The chromosome inspection in 138 patients was undertook and found that 53 patients (38.7 ％ with abnormal karyotype,mainly in 20q- and +8;16 cases with complex abnormal karyotype (28 ％), two patients in 5q-. 180 patients were underwent bone marrow biopsy at the same time and found that 19 patients with abnormal morphology;42 patients with bone marrow fibrosis.ConclusionsCombining with multiple index to detect the MDS contributes to the classification and diagnosis more accuratcly and long-term follow-up helps to judgment the prognosis.

A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype

Chimerism in humans is a rare phenomenon often initially identified in the resolution of an ABO blood type discrepancy. We report a dispermic chimera who presented with mixed field in his B antigen typing that might have been mistaken for the B3 subtype. The propositus is a healthy Korean male blood donor. Neither his clinical history nor initial molecular investigation of his ABO gene explained his mixed field agglutination with murine anti-B. Chimerism was suspected, and 9 short tandem repeat (STR) loci were analyzed on DNA extracted from blood, buccal swabs, and hair from this donor and on DNA isolated from peripheral blood lymphocytes from his parents. The propositus' red blood cells demonstrated mixed field agglutination with anti-B. Exon 6 and 7 and flanking intronic regions of his ABO gene were sequenced and revealed an O01/O02 genotype. B allele haplotype-specific PCR, along with exon 6 and 7 cloning and sequencing demonstrated a third ABO allele, B101. Four STR loci demonstrated a pattern consistent with a double paternal chromosome contribution in the propositus, thus confirming chimerism. His karyotype revealed a mosaic pattern: 32/50 metaphases were 46,XY and 18/50 metaphases demonstrated 47,XYY.