نتایج جستجو برای: robertsonian translocation

تعداد نتایج: 47030  

Journal: :Human molecular genetics 2000
A S Hill N J Foot T L Chaplin B D Young

The t(11;22) is the most common recurrent non-Robertsonian constitutional translocation in humans, having been reported in more than 160 unrelated families. Balanced carriers are at risk of having offspring with the derivative 22 syndrome owing to 3:1 meiotic non-disjunction event. Clinical features of the der(22) syndrome include mental retardation, craniofacial abnormalities and congenital he...

Journal: :cell journal 0

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...

2010
Radhakrishnan Yashwanth Nallathambi Chandra P. M. Gopinath

The association of acrocentric chromosomes by their satellites, referred as satellite associations (SAs), is implicated as a cause for non-disjunction and hence an etiological factor for Down syndrome. The present study compares the frequency of SAs observed in 30 children with Down syndrome and their parents to that seen in 16 healthy children and their parents. Silver (Ag-NOR) stained metapha...

Journal: :International journal of molecular medicine 2007
M Manvelyan I Schreyer I Höls-Herpertz S Köhler R Niemann U Hehr B Belitz I Bartels J Götz D Huhle M Kossakiewicz H Tittelbach S Neubauer A Polityko M-L Mazauric R Wegner M Stumm P Küpferling F Süss H Kunze A Weise T Liehr K Mrasek

A molecular cytogenetic study was performed on 48 infertile patients who were identified as carriers of balanced translocations (40 cases), inversions (6 cases) or insertions (2 cases) by means of banding cytogenetics. Cases with a Robertsonian translocation or pericentric inversion 2 or 9 were not included. In summary, 100 break-events occurred in these patients, and 90 different chromosomal r...

Journal: :Defence life science journal 2021

Radiation-induced oxidative stress and haematopoietic genomic instability is the major concern during planned or unplanned exposure. Use of natural phytochemicals an emerging strategy to prevent from harmful effects radiation. In current investigation, Quercetin 3-Rutinoside (Q-3-R), a polyphenolic bioflavonoid, has been evaluated against gamma radiation (2Gy) induced genotoxic damage imbalance...

Journal: :Journal of medical genetics 1973
C J Chapman R J Gardner A M Veale

A large family in which a t(21q22q) chromosome is segregating is described. Segregation analysis using data from this family and previously published families shows the risk to a female carrier of having a child with transloca-tion Down's syndrome to be O-0684 + 0'0270. The risk to a male carrier is probably much smaller with an upper limit of 0-0286. The segregation ratio for phenotypically no...

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