incontinentia pigmenti is a rare inherited disorder involving abnormalities of the skin, hair, eyes, musculoskeletal system, central nervous system, and the teeth. dental abnormalities are the most common manifestations of this disorder. the purpose of this case report was to present the clinical and radiological findings of a seven-year-old girl as well as the results of her five-year follow u...

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...

background: androgen insensitivity syndrome (ais) or testicular feminization is a partial or complete inability of cell response to androgen. the cause is enzymatic defect in synthesis of testosterone, resulting sexually immature phenotypically female, with primary amenorrhea. there are three categories of ais, complete, partial and mild, depending on the degree of external genital masculinizat...

introduction: the most common chromosomal abnormalities detected in perinatal period are aneuploidies of chromosome 21, 18, 13, x and y. the aim of this study is to assess referral reasons for invasive diagnostic method using rapid qf-pcr for fetal chromosomal abnormalities in gynecologists’ referrals. methods: a retrospective study of results was performed on data between september 2015 and ju...

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...