Deletions on chromosomes 5 and 7 are frequently seen in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). It is assumed that these deletions indicate loss of tumor suppressor genes on these chromosomes and until these tumor suppressor genes are identified, the functional consequences of these deletions and the molecular basis of these myeloid disorders cannot be completely unders...

Cytogenetic abnormalities are frequently detected in patients with acute lymphoblastic leukemia (ALL). Comprehensive karyotype was related to poor prognosis frequently in ALL. We present a comprehensive karyotype in an adult ALL by spectral karyotyping (SKY) and R-banding. SKY not only confirmed the abnormalities previously seen by R-banding but also improved comprehensive karyotype analysis wit...

INTRODUCTION Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. A female appearance patient with primary amenorrhea and 46 XY karyotype seems to be solid evidences to diagn...

OBJECTIVE To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS Congenital ...

Objective To compare the roles of fluorescence in situ hybridization (FISH) and karyotype analysis on chorionic villus in spontaneous abortion. Methods A total of 201 cases were included in this study and were randomly divided into 2 groups by the same gestational age. The villi from 100 cases (group A) were cultured and used for karyotype analysis, while the uncultured villi from 101 women (gr...

in this study, for the first time in iran, the karyotype of bigmouth lotak, cyprinion macrostomum heckel, 1843, was investigated through examining metaphase chromosomes of seven fish with mean weight 30±5g caught by electrofishing from godarkhosh river in ilam province. to stimulate cell divisions, fish were injected intraperitoneally two times by phytohemagglutinin (pha). the cell divisions we...

BACKGROUND Serum human chorionic gonadotropin (hCG) and hCG free beta-subunit tests are used in combination with unconjugated estriol and alpha-fetoprotein in the triple screen test, and with the addition of inhibin-A in the quadruple marker test for detecting Down syndrome in the second trimester of pregnancy. These tests have a limited detection rate for Down syndrome: approximately 40% for h...

BACKGROUND Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function. METHODS A cohort of 70 TS patients (0-16 years) followed at a tertiary referral centre for paediatric endocrinology were inclu...

stimulating hormone (FSH), prolactin, testosterone, oestradiol, and sex hormonebinding globulin. The hypothalamuspituitary-testis axis was assessed using the gonadotrophin-releasing hormone (GnRH) test. All participants also received an injection of human chorionic gonadotrophin (hCG) and serum testosterone was determined before the hCG injection and on the third day afterwards. Conventional ka...