نتایج جستجو برای: robertsonian translocation

تعداد نتایج: 47030  

Journal: :International journal of clinical and experimental pathology 2014
Xinjie Zhuang Jin Huang Xiaohu Jin Yang Yu Junsheng Li Jie Qiao Ping Liu

OBJECTIVE To determine the diagnostic features of Robertsonian (Rob) translocation (11; 13) in mice and the mechanisms underlying the effect on spermatogenesis and reproductive decline. METHODS A Rob translocation (11; 13) mouse model was established by cross-breeding, and confirmed by chromosome analysis. Chromosome aberrations and translocation patterns were identified in mice with Rob tran...

Journal: :Journal of medical genetics 1984
I Tierney D Axworthy L Smith S G Ratcliffe

Thirty-six infants were identified by cytogenetic screening at birth as having balanced rearrangements of their autosomes, and 30 of them took part in a longitudinal study of their development, together with four of their affected sibs. With the exception of one child with a de novo reciprocal translocation who died, all children attended normal schools. Congenital malformations and short statu...

2006
Asma Khalil Pranav Pandya

In 1866 J Langdon Down made the observation of a subgroup of patients with particular facial features and mental handicap in the outpatient department of the London Hospital 1. In the late 1950’s, it was shown that an extra acrocentric chromosome was present in persons with Down syndrome, resulting in a diploid chromosome number of 47. It is now known that Down syndrome results when either the ...

2017
Wiem Ayed Islem Messaoudi Zouhour Belghith Wajih Hammami Imen Chemkhi Nabila Abidli Helmy Guermani Rim Obay Ahlem Amouri

Recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses before 24 weeks of gestation. Parental chromosomal abnormalities represent an important etiology of RM. The aim of the present study was to identify the distribution of chromosome abnormalities among Tunisian couples with RM referred to the Department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia) du...

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