Ring Y chromosome is a very rare chromosomal aberration. The published mixed gonadal dysgenesis (MGD) patients with a ring Y chromosome are short in stature, but are not growth hormone (GH) deficient. We present the molecular cytogenetic and molecular characterization of ring Y chromosome mosaicism in a 10-year-old boy with MGD whose short stature could be explained by the high percentage of ce...

application of nuclear magnetic resonance imaging (nmri) as a non-invasive and accurate imaging procedure has been widely used in recent years. meanwhile, the biological effects of magnetic fields of several tesla (t) and high energy radiofrequency (rf) is not fully known yet. because of controversy over this issue, the present research has been carried out in order to verify the effects of mag...

background: induction of radioadaptive responses in cells pretreated with a low dose radiation before exposure to a high dose is well documented by many investigators. the aim of this study is to determine the frequency of chromosomal aberration in peripheral blood lymphocytes of patients treated by radioiodine (131i) for hyperthyroidism, with or without previous thyroid scan with 99mtc. materi...

Although rare, mucoepidermoid carcinoma (MEC) is one of the most common malignant salivary gland tumors. The presence of the t(11;19)(q21;p13) translocation in a subset of MECs has raised interest in genomic aberrations in MEC. In the present study we conducted genome-wide copy-number-aberration analysis by micro-array comparative-genomic-hybridization on 27 MEC samples.Low/intermediate-grade M...

introduction: fluorscence in situ hybridization (fish) enables specific detection of unique sequences of varying length, chromosomal regions or entire chromosomes within metaphase or interphase cells. recent developments in this technology permit the rapid mapping and ordering of dna fragments on single metaphase chromosome bands. the technique of fish incorporates several stages including: pro...

A total of 150 infertile couples underwent chromosome analysis and genetic counselling before intracytoplasmic sperm injection (ICSI). Chromosomal abnormalities, including low-level sex chromosome mosaicism, were detected in 12% of the men and an unexpectedly high 6% of the women. Chromosomal abnormalities included gonosomal mosaicism in 13 cases, Robertsonian translocations in four males, auto...

OBJECTIVES To assess the clinical utility of conventional karyotyping as a diagnostic tool in soft tissue tumours amidst the increasing use of molecular cytogenetics. DESIGN Case series. SETTING Singapore General Hospital, an Asian institution. PARTICIPANTS A total of 35 participants (18 male and 17 female) aged 15 to 81 years were included in this study. Conventional karyotyping of 35 co...

AIM To evaluate chromosome aberration and fluorescent in situ hybridization (FISH) assays as a method to estimate of health risk, we monitored 9 male subjects occupationally exposed to low doses of both ionizing radiation and ultrasound during a period of over 3 years. METHODS Sampling was performed at 6-month intervals during a three-year period. First we used conventional chromosomal aberra...

OBJECTIVE To analyze the chromosomal abnormalities in couples with history of recurrent abortions. DESIGN Retrospective study. SETTING Cytogenetic section, Department of Pathology at the Aga Khan University Hospital, Karachi, Pakistan. PATIENTS Three hundred couples with history of recurrent abortions. MAIN OUTCOME MEASURE Structural chromosomal abnormalities in carrier couples. RESUL...

The main aim of this work is to present unusual case with full trisomy 18 and additional robertsonian translocation- Rob (13;14) detected through abnormalities found in prenatal ultrasound examination. A 26 years-old pregnant women with no family history of any reproductive failure underwent level II ultrasound screening in 19 weeks of gestation. Polyhydramnios, intrauterine growth retardation,...