BACKGROUND Chromosomal abnormalities frequently are associated with impairment or arrest of spermatogenesis in mammals but are compatible with fertility in female carriers of the same anomaly. In the case of trisomy, mice have extra genomic DNA as well as the chromosomal abnormality, usually present as an extra, unpaired chromosome. Thus, impairment of spermatogenesis in trisomic males could be...

The present case report describes a 46-year-old female patient diagnosed with M4 acute myeloid leukemia (AML), accompanied with a t(1;9)(p22;q34) chromosomal abnormality. Transcriptome sequencing identified a DEK proto-oncogene (DEK)/nucleoporin (NUP)214 fusion gene, which results from the t(6;9)(p23;q34) chromosomal translocation. Polymerase chain reaction analysis and fluorescence in situ hyb...

objective: to verify the hypothesis that the incidence of chromosomal abnormalities increases in babies conceived by different assisted reproduction procedures. the availability of the umbilical cord blood encouraged us to study this hypothesis via this method. materials and methods: this is a descriptive study, umbilical cord blood samples of assisted reproductive technology (art) children wer...

OBJECTIVES To analyze chromosomes in children with suspected genetic disorder and to categorize the chromosomal basis of genetic disorder. MATERIALS AND METHODS Thirty children were selected from the patients attending genetic clinic, Department of Pediatrics, B.P. Koirala Institute of Health Sciences presenting with dysmorphic feature, mental retardation, short stature, congenital malformati...

infertility affects approximately 15% of couples worldwide. within 50% of cases, man provides reproductive function disorders (1). the cause of infertility in men with oligospermia and azoospermia seems to be due to underlying genetic abnormalities (2). chromosomal abnormalities are one of the causes of human infertility as they interfere with spermatogenesis. the frequency of chromosomal aberr...

  Background and Objectives: Primary amenorrhea is not a disease but a symptom that may result from several quite different causes[NN1] . Common hormonal cause of primary amenorrhea includes constitutional delay, hypothalamic –pituitary dysfunction, chronic systemic disease and absent ovarian function. The aim of this study was to estimate the incidence of the chromosomal abnormality referred ...

Background: Immune-associated adverse pregnancy is the outcomes induced by autoimmune factors or diseases, including infertility, recurrent spontaneous abortion, failed assisted reproduction, fetal growing restriction. It helpful to explore mechanism and improve management analyzing clinical characteristics of patients with immune-associated pregnancy. Objectives: To find risk Methods: The invo...