Objective: Advances in the science of genetics and development assisted reproductive techniques focus on genetic causes infertility. The aim this research is to reveal abnormalities terms sex chromosome aneuploidy Y microdeletions. Material Methods: A total 350 patients with azoospermia or severe oligozoospermia were selected. After general examination laboratory investigations performed, carto...

The purpose of the clinical case was to describe combination chromosome abnormaliries in girl with malformations large intestine.Girl A., 1, 9 year old born prematurely. From birth, multiple stigmas dysembriogenesis: poor weight gain, absence an independent stool, marked delayed physical and psychomotor development attracted attention. During doppler echocardiography, a left-sided right- formed...

Background: Tobacco use has toxic effects on different organs. This study was carried out to assess the effect of indigenous tobacco both in smoking (bidi) and smokeless (gutkha, zarda and khaini) forms on buccal cells at chromosomal level, through assessment of different nuclear anomalies as biomarker. Methods:This study was done on people living in Durgapur and its adjacent areas, West Bengal...

BACKGROUND In Philadelphia-negative chronic myeloproliferative disorders (CMPD), increased proliferation with effective maturation of the myeloid lineage is present, while peripheral leukocytosis, thrombocytosis or elevated red blood cell mass are found. This group of disorders includes polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Furthermore, cases...

Lipomas are common benign soft tissue tumors whose genetic and cytogenetic features are well characterized. The karyotype is usually near- or pseudodiploid with characteristic structural chromosomal aberrations. The most common rearrangements target the high mobility group AT-hook 2 (HMGA2) gene in 12q14.3, with breakpoints occurring within or outside of the gene locus leading to deregulation o...

OBJECTIVE To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). DESIGN Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, and karyotyping. In 19 ...

Objective: To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). Design: Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, and karyotyping. In 19 ...

P artial trisomy 16p is a rare chromosomal anomaly in newborns: of the fewer than 30 carrier patients so far reported, most were born to parents with a balanced translocation involving the p arm of chromosome 16. Pure partial trisomy 16p has been reported in seven patients, three of whom (all showing behavioural problems with autistic traits) carried a tandem duplication of the (16)(p11.2–p12) ...

The premature ovarian failures with underlying chromosomal abnormalities are normally X-linked, although their associations with the autosomal and the Robertsonian translocations are also possible. Here, we are reporting a case of premature ovarian failure which was associated with a translocation between the long arm of chromosome 7 at q11.23 and the short arm of chromosome 5 at p15.3. The pro...

uterine leiomyomas/fibroids are the most common pelvic tumors of the female genital tract. the initiators remaining unknown, estrogens and progesterone are considered as promoters of fibroid growth. fibroids are monoclonal tumors showing 40-50% karyo-typically detectable chromosomal abnormalities. cytogenetic aberrations involving chromosomes 6, 7, 12 and 14 constitute the major chromosome abno...