Cytogenetic analysis of bone marrow cells and in vitro growth for bone marrow granulocytic-macrophage stem cells have been performed in 13 patients with mastocytosis, six with systemic mastocytosis, and seven with urticaria pigmentosa. Clones with chromosome abnormalities were found in five patients. The number of clusters and/or colonies after seven days in culture was increased in seven patie...

times that needed to denature egg albumin, using the estimate given by Mirskyl2 or fifty times the energy needed for the inactivation of certain ionic forms of pepsin according to Steinhardt's determinations."3 The denaturation of egg albumin by ultra-violet light is a first order reaction,'4 i.e., the survival curve is a straight line similar to that obtained for chromosome abnormalities. It s...

OBJECTIVE To determine the frequency of "signature" chromosomal abnormalities in oncology workers handling anticancer drugs. METHODS Peripheral blood from health care personnel (N = 109) was examined with probes for targets on chromosomes 5, 7, and 11. The effect of drug-handling frequency on chromosome abnormalities was assessed. RESULTS An excess of structural (0.18 vs 0.02; P = 0.04) and...

We present 2 cases of likely rare event. In case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. The same inv(6) being inherited in progeny but presented with low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...

Chromosomal karyotype is important to determine whether a newborn has genetic disorder. There are two main categories of chromosomal abnormalities, structural abnormalities in which the chromosome structure altered, and number abnormalities. Manual karyotyping complex takes lot time because it requires high degree domain expertise. Based on this investigation proposes new method defect detectio...

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 (co...

BACKGROUND Male infertility is responsible for 50% of infertile couples. Thirty percent of male infertility is due to cytogenetic and genetic abnormalities. In Arab and North African populations, several studies have shown the association of these chromosomal abnormalities with male infertility. Our objective is to evaluate the frequency of chromosomal abnormalities and Y chromosome microdeleti...

Premature Ovarian Failure (POF) defined as functional stop of ovaries before the age of 40. It is a common cause of infertility in women that characterized by primary or secondary amenorrhea, high gonadotropin levels and estrogen level declining in patients. Factors that reduce follicle or defect in the follicle growth stimulating mechanism defined as numerous complication factors that they can...

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...

A nonrandom pattern of chromosomal abnormalities occurs in bone marrow cells obtained from patients with hematologic disorders who have an abnormal karyotype involving a C group chromosome. An additional number 8 chromosome is the most common abnormality, found in more than one-half of the patients studies. An additional number 9 chromosome and the loss of all or part of a number 7 are abnormal...