نتایج جستجو برای: small supernumerary marker chromosome ssmc

تعداد نتایج: 1015567  

2002
A Weise H Starke A Heller H Tönnies M Volleth M Stumm T Liehr

The field of human cytogenetics has been through many different stages of development, each of them improving the characterisation of structurally abnormal and/or supernumerary chromosomes. The era of reliable identification of human chromosomes started with the invention of the banding method by Dr Lore Zech in 1968. The introduction of fluorescence in situ hybridisation (FISH) techniques in h...

Journal: :Journal of medical genetics 2002
A Weise H Starke A Heller H Tönnies M Volleth M Stumm S Gabriele A Nietzel U Claussen T Liehr

The field of human cytogenetics has been through many different stages of development, each of them improving the characterisation of structurally abnormal and/or supernumerary chromosomes. The era of reliable identification of human chromosomes started with the invention of the banding method by Dr Lore Zech in 1968. The introduction of fluorescence in situ hybridisation (FISH) techniques in h...

Journal: :Journal of medical genetics 1992
D David R A Marques M H Carreiro I Moreira M G Boavida

48,XXXX and 49,XXXXY chromosome constitutions are rare and while several such polysomies have been described in the past, the parental origin of the supernumerary chromosomes has only been described in a few cases.'2 More recently, difficulties owing to the reduced informativeness of the Xg antigen marker have been overcome by the use of X linked restriction fragment length polymorphisms (RFLPs...

Journal: :Genetics 1998
C He A G Rusu A M Poplawski J A Irwin J M Manners

Two biotypes (A and B) of Colletotrichum gloeosporioides infect the tropical legumes Stylosanthes spp. in Australia. These biotypes are asexual and vegetatively incompatible. However, field isolates of biotype B carrying a supernumerary 2-Mb chromosome, thought to originate from biotype A, have been reported previously. We tested the hypothesis that the 2-Mb chromosome could be transferred from...

Journal: : 2023

Here we describe a rare case of an abnormal karyotype with supernumerary derivative chromosome der(22)t(11;22), associated Emanuel syndrome, in boy aged 1 year. Familial cytogenetic analysis revealed the maternal origin anomaly from reciprocal translocation t(11;22) (q23;q11.2). At time examination, child had numerous anomalies development, facial dysmorphia, and small size external genitalia. ...

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