Add to ORKGWe report a case of a rare balanced Robertsonian translocation, t (21q; 21q) in one of the parents that results in adverse pregnancy outcome in 100 % of cases, either first trimester miscarriages or Down syndrome in all viable fetuses. The case highlights the role of optimum genetic evaluation of all cases of reproductive disorders as they can have profound effect over prognosis and further management
[[abstract]]Objective: To present our experience of amniocentesis for the prenatal diagnosis of Down...
Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chrom...
Studies were conducted in 222 children clinically diagnosed with Down syndrome (properly diagnosed o...
Robertsonian translocations are unique type of whole-arm translocation that result from ‘centric fus...
We aim to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring o...
CONTEXT: Robertsonian translocations (RT) are among the most common balanced structural rearrangemen...
Down syndrome, or trisomy 21, is by far the most common and best known chromosome disorder and is th...
Background: Robertsonian translocations occur in approximately one in every 1000 newborns. Although ...
The researchers evaluated pregnancies in families with balanced/unbalanced translocations. This clin...
Robertsonian translocation is one of the major chromosomal re-arrangements and constitutes 18 % of a...
Introduction: Down syndrome (DS) is a common genetic disorder, occurring in approximately 1 in 700 b...
Funding Information: The authors of this publication are members of the European Reference Network o...
SummaryObjectiveTo present our experience of amniocentesis for the prenatal diagnosis of Down syndro...
Robertsonian translocations are classified as the most com-mon balanced structural chromosomal rearr...
Balanced translocation carriers are burdened with fertility issues due to improper chromosome segreg...
[[abstract]]Objective: To present our experience of amniocentesis for the prenatal diagnosis of Down...
Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chrom...
Studies were conducted in 222 children clinically diagnosed with Down syndrome (properly diagnosed o...
Robertsonian translocations are unique type of whole-arm translocation that result from ‘centric fus...
We aim to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring o...
CONTEXT: Robertsonian translocations (RT) are among the most common balanced structural rearrangemen...
Down syndrome, or trisomy 21, is by far the most common and best known chromosome disorder and is th...
Background: Robertsonian translocations occur in approximately one in every 1000 newborns. Although ...
The researchers evaluated pregnancies in families with balanced/unbalanced translocations. This clin...
Robertsonian translocation is one of the major chromosomal re-arrangements and constitutes 18 % of a...
Introduction: Down syndrome (DS) is a common genetic disorder, occurring in approximately 1 in 700 b...
Funding Information: The authors of this publication are members of the European Reference Network o...
SummaryObjectiveTo present our experience of amniocentesis for the prenatal diagnosis of Down syndro...
Robertsonian translocations are classified as the most com-mon balanced structural chromosomal rearr...
Balanced translocation carriers are burdened with fertility issues due to improper chromosome segreg...
[[abstract]]Objective: To present our experience of amniocentesis for the prenatal diagnosis of Down...
Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chrom...
Studies were conducted in 222 children clinically diagnosed with Down syndrome (properly diagnosed o...