scholarly journals The Future of Prenatal Diagnosis and Screening

2014 ◽  
Vol 3 (4) ◽  
pp. 1291-1301 ◽  
Author(s):  
Eugene Pergament
2013 ◽  
Vol 10 (2) ◽  
pp. 131-134 ◽  
Author(s):  
Antonio Novelli ◽  
Pietro Cavalli ◽  
Laura Bernardini

1993 ◽  
Vol 92 (2) ◽  
pp. 163-168 ◽  
Author(s):  
Martina C. Cornel ◽  
Anton S. P. M. Breed ◽  
Johan R. Beekhuis ◽  
Gerard J. te Meerman ◽  
Leo P. ten Kate

2007 ◽  
Vol 27 (10) ◽  
pp. 891-892 ◽  
Author(s):  
Diana W. Bianchi

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Kirsi Kiiski ◽  
Tiiu Roovere ◽  
Riina Zordania ◽  
Harriet von Koskull ◽  
Nina Horelli-Kuitunen

We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients. In the current case prenatal chromosome analysis (G-banding) performed on cultured amniocytes revealed additional material in chromosome 19p. This was further defined as a chromosome 17p13.1p13.3 duplication by FISH and genomic microarray analysis (GMA). In addition Prenatal BACs-on-Beads (PN_BoBs) assay was performed, which detected the duplication clearly. This enables rapid prenatal diagnosis of the duplication for this family in the future.


1974 ◽  
Vol 4 (5) ◽  
pp. 11 ◽  
Author(s):  
Tabitha M. Powledge ◽  
Sharmon Sollitto

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