نتایج جستجو برای: chromosomal disorders

تعداد نتایج: 715373  

Journal: :journal of reproduction and infertility 0

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...

Journal: :Rwanda medical journal 2023

INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings. Therefore, the aim of this work to present different phenotypic features syndrome. CASE PRESENTATION: We reviewed two-month-old patient referred genetic unit at Rwanda military hospital, Kigali, Rwanda. Physical examinations indicated severe l...

2012
Kuntal Mukherjee Francesca Storici

DNA amplification is a molecular process that increases the copy number of a chromosomal tract and often causes elevated expression of the amplified gene(s). Although gene amplification is frequently observed in cancer and other degenerative disorders, the molecular mechanisms involved in the process of DNA copy number increase remain largely unknown. We hypothesized that small DNA fragments co...

Journal: :Pathobiology : journal of immunopathology, molecular and cellular biology 2007
Donald Macdonald Nicholas C Cross

The term chronic myeloproliferative disorders was originally used by Damashek to describe the link amongst a group of acquired blood diseases. Recent molecular genetic analysis has provided a scientific basis for this observation. Underlying myeloproliferative disorders are acquired abnormalities of tyrosine kinase genes. These may be chromosomal translocations resulting in the creation of a fu...

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