AIM:To estimate the prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with azoospermia and severe oligozoospermia and its correlation with successful surgical sperm retrieval.SETTING AND DESIGN:A prospective study in a tertiary level infertility unit.MATERIALS AND METHODS:In a prospective observation study, men with azoospermia and severe oligozoospermia (concentration <5 million/ml) attending the infertility center underwent genetic screening. Peripheral blood karyotype was done by Giemsa banding. Y chromosome microdeletion study was performed by a multiplex polymerase chain reaction.RESULTS:The study group consisted of 220 men, 133 of whom had azoospermia and 87 had severe oligozoospermia. Overall, 21/220 (9.5%) men had chromosomal abnormalities and 13/220 (5.9%) men had Y chromosome microdeletions. Chromosomal abnormalities were seen in 14.3% (19/133) of azoospermic men and Y chromosome microdeletions in 8.3% (11/133). Of the 87 men with severe oligozoospermia, chromosomal abnormalities and Y chromosome microdeletions were each seen in 2.3% (2/87). Testicular sperm aspiration was done in 13 men and was successful in only one, who had a deletion of azoospermia factor c.CONCLUSIONS:Our study found a fairly high prevalence of genetic abnormality in men with severe semen abnormalities and a correlation of genetic abnormalities with surgical sperm retrieval outcomes. These findings support the need for genetic screening of these men prior to embarking on surgical sperm retrieval and assisted reproductive technology intracytoplasmic sperm injection.

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The frequency (1.7%) and distribution of these translocations in our series and the association with 1q and 13q abnormalities is similar to the literature. Trisomies 7 and 12 were seen in less than 10% of our patients.

Objectives This study examined the impact of various preanalytical variables on metaphase yield in hematologic malignancies. Methods Marrow samples from patients with hematologic malignancies that were subjected to cytogenetic analysis were categorized into two groups: one with samples that yielded an adequate number of metaphases, defined as at least 20, and a second with a low number of metaphases (LNM), having fewer than 20 metaphases. Age, sex, bone marrow nucleated cell (MNC) count, and peripheral blood counts (hemoglobin, total WBC count, and platelet count) were analyzed for an association with LNM. Results Of 455 samples, 17% (79/455) belonged to the LNM group, including 6% (27/455) that yielded no metaphases. MNCs and WBCs were higher in the LNM group (P &lt; .001 for both). MNCs were higher in LNM groups in both acute myeloid leukemia (P = .008) and acute lymphoblastic leukemia (P = .001). Receiver operating characteristic curves showed moderate prediction of MNC and WBC counts for LNM with areas under the curves of 0.7. Other analyzed parameters showed no significant associations with LNM. Conclusions Low metaphase yields occur frequently in hematologic malignancies with high counts. This could reflect biological characteristics of these malignancies that merit further investigation.

Aim and objective: To study the phenotypic features and inheritance patterns in children diagnosed with Emanuel syndrome (ES). Materials and methods: All children who underwent cytogenetic analysis at the Christian Medical College, Vellore and whose karyotypes showed the supernumerary chromosome 22 derived from an unbalanced translocation (11;22)(q23;q11.2) were included. Karyotypes of family members were retrieved from hospital records. Metaphases were obtained from phytohemagglutinin-stimulated peripheral blood cultured using standard protocols. At least 20 Giemsa-banded metaphases were analyzed and reported in accordance with the International System for Human Cytogenomic Nomenclature. The clinical features and imaging findings were retrieved from our medical records. The karyotype findings of parents and family history including the obstetric history of all mothers were recorded. Results: There were eight children, three girls and five boys, all of whom were from unrelated families. The age at presentation ranged from 8 months to 8 years of age. Three families presented with significant family history in the form of previous sibling deaths, recurrent abortions in the mother, and maternal siblings' death. All eight children presented with global developmental delay. Preauricular sinus was found in six children (6/8,75%), while microcephaly and hypotonia in five each (5/8,62.5%). More than half of our children presented with structural cardiac and brain malformations. In three children, the der( 22) was found to have originated from a maternal source of the t(11;22). All three mothers who harbored this translocation were phenotypically normal. Conclusion:The characteristic clinical features of ES found in our study included preauricular sinus, microcephaly, hypotonia, cardiac defects, and structural brain malformations. The maternal source of the t(11;22) was the commonest mode of inheritance among children diagnosed with ES. Clinical significance: Emanuel syndrome is a rare syndrome and it is extremely important to identify the phenotypic features of this clinical entity since early intervention can aid in appropriate counselling and offering prenatal testing. The majority of children diagnosed with ES were found to have inherited this genetic defect due to a translocation (11;22) running in the family. Hence, a clear understanding of the reproductive outcomes of the t(11;22) is of vital importance in counseling the family members and offering prenatal testing.