نتایج جستجو برای: robertsonian translocations

تعداد نتایج: 5958  

Journal: :International journal of advanced research 2022

Introduction: Cytogenetic abnormalities are one of the important causes recurrent pregnancy loss or bad obstetric history and Infertility. Almost 50% first trimester upto 20% second can be due to cytogenetic cause. At same time, also detected in2-3% cases with infertility especially in males. Methods: In this paper, wepresent our detailed analysisof13,618 Bad Obstetric History (BOH) cases,refer...

2010
N. Chandra Cyrus Cyril Prema Lakshminarayana P. Nallasivam A. Ramesh P. M. Gopinath K. M. Marimuthu

A retrospective analysis was performed on 1102 cases with a provisional diagnosis of Down syndrome referred to the Department of Genetics, Dr.ALMPGIBMS, University of Madras during the period from 1979 to 2006. Cytogenetic analyses confirmed the diagnosis in 1020 cases (92.6%). Among them, regular (free) trisomy 21 constituted 83.82 percent. Mosaicism was recorded in 10.78% and Robertsonian tra...

2013
Selim Kolgeci Jehona Kolgeci Mehmedali Azemi Ruke Shala-Beqiraj Zafer Gashi Mentor Sopjani

CONFLICT OF INTEREST none declared. AIM The aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome. METHODS Cytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright. RESULT...

Journal: :Journal of medical genetics 1981
G Guanti

The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation. An analysis of published reports revealed that of the 57 reported cases, only 21 showed...

Journal: :Cytogenetic and genome research 2003
F Yang B Fu P C M O'Brien T J Robinson O A Ryder M A Ferguson-Smith

Complete sets of chromosome-specific painting probes, derived from flow-sorted chromosomes of human (HSA), Equus caballus (ECA) and Equus burchelli (EBU) were used to delineate conserved chromosomal segments between human and Equus burchelli, and among four equid species, E. przewalskii (EPR), E. caballus, E. burchelli and E. zebra hartmannae (EZH) by cross-species chromosome painting. Genome-w...

2013
Veronica Ortega Christina Mendiola Eric Williamson Kenneth Higby Gopalrao V. N. Velagaleti

We present a case of fetoplacental discrepancy in a second-trimester fetus with normal karyotype in amniotic fluid and two different Robertsonian translocations in placenta. A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(...

Journal: :Agronomy 2023

Agropyron cristatum (P genome) is a Triticeae species from the wheat tertiary gene pool which has economic importance as forage and also displays traits beneficial to wheat. Resistance leaf rust was previously mapped short arm of chromosome 1P (1PS) in A. by development compensating Robertsonian translocation involving 1PS long 1B (1BL). In this study, engineered using ph1b mutation induce 1BS/...

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