نتایج جستجو برای: robertsonian translocations

تعداد نتایج: 5958  

Journal: :Genetics 2006
Karim Gharbi Angélique Gautier Roy G Danzmann Sonia Gharbi Takashi Sakamoto Bjørn Høyheim John B Taggart Margaret Cairney Richard Powell Francine Krieg Nobuaki Okamoto Moira M Ferguson Lars-Erik Holm René Guyomard

We report on the construction of a linkage map for brown trout (Salmo trutta) and its comparison with those of other tetraploid-derivative fish in the family Salmonidae, including Atlantic salmon (Salmo salar), rainbow trout (Oncorhynchus mykiss), and Arctic char (Salvelinus alpinus). Overall, we identified 37 linkage groups (2n = 80) from the analysis of 288 microsatellite polymorphisms, 13 al...

Journal: :Journal of clinical and diagnostic research : JCDR 2013
Mot Yee Yik Murizah Mohd Zain Zubaidah Zakaria Narazah Mohd Yusoff

The premature ovarian failures with underlying chromosomal abnormalities are normally X-linked, although their associations with the autosomal and the Robertsonian translocations are also possible. Here, we are reporting a case of premature ovarian failure which was associated with a translocation between the long arm of chromosome 7 at q11.23 and the short arm of chromosome 5 at p15.3. The pro...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2001
S Garagna N Marziliano M Zuccotti J B Searle E Capanna C A Redi

In mammals, Robertsonian (Rb) translocation (the joining of two telo/acrocentric chromosomes at their centromere to form a metacentric) is the most effective process in chromosomal evolution leading to speciation; its occurrence also affects human health (through the induction of trisomies) and the fertility of farm animals. To understand the mechanism of Rb translocation, we used the house mou...

2013
A Pazarbasi O Demirhan D Alptekin FT Ozgunen L Ozpak MB Yilmaz E Nazlican N Tanriverdi U Luleyap D Gümürdülü

The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same tra...

2011
Sayedehafagh Hosseini Marzieh Vahid Dastjerdi Zahra Asgari Haydeh Samiee

INTRODUCTION A case of premature ovarian failure with concomitant findings of Robertsonian translocation between 15 and 21 chromosomes is reported here. The aforementioned karyotypic aberration has not been reported in the context of premature ovarian failure to date. CASE PRESENTATION We present a case of premature ovarian failure in a 27-year-old infertile Kurdish Iranian woman with a Rober...

2017
ANDREEA LIANA RACHISAN ALEXANDRU STEFAN NICULAE IOANA TINTEA BIANCA POP MARIELA MILITARU AUREL BIZO ADRIAN HRUSCA

We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X sy...

Journal: :Turkish journal of medical sciences 2015
Nagwa E A Gaboon Ahmed Ramy Mohamed Solaf M Elsayed Osama K Zaki Mohamed A Elsayed

BACKGROUND/AIM To evaluate the incidence of chromosomal abnormalities in couples who experience recurrent abortion and identify additional factors that may be predictive of abortion, such as parental age and unfavorable obstetric or abnormal semen analysis. MATERIALS AND METHODS The present study examined 125 couples who had experienced recurrent abortion. All subjects provided a detailed per...

2006
Raj Mathur

provides another reason for recommending that any pregnancy in subfertile couples, whether achieved naturally or through infertility treatment, is carefully monitored by a fetal medicine specialist, with detailed antenatal imaging. Given the possible link between infertility treatment and anomalies, counselling of affected couples in relation to future pregnancies may be more complex and requir...

2014
B. Xiong K. Tan Y.Q. Tan F. Gong S.P. Zhang C.F. Lu K.L. Luo G.X. Lu G. Lin

Translocation is one of the more common structural rearrangements of chromosomes, with a prevalence of 0.2%. The two most common types of chromosomal translocations, Robertsonian and reciprocal, usually result in no obvious phenotypic abnormalities when balanced. However, these are still associated with reproductive risks, such as infertility, spontaneous abortion and the delivery of babies wit...

Journal: :International journal of molecular medicine 2008
Pawel K Wlodarski Radoslaw Maksym Monika Oldak Sergiusz Jozwiak Andrzej Wojcik Jaroslaw Jozwiak

Tuberous sclerosis (TS), neurological disorder manifesting with the formation of tumors in numerous organ systems, is a disease associated with the upregulation of mammalian target of rapamycin (mTOR) pathway. It has been found that in healthy individuals two tumor suppressor genes, TSC1 and TSC2, encoding proteins called hamartin and tuberin, respectively, are responsible for the control over ...

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