Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature

2012 ◽  
Vol 21 (2) ◽  
pp. 101-105 ◽  
Author(s):  
Emmanouil Manolakos ◽  
Stavros Sifakis ◽  
Sotirios Sotiriou ◽  
Panagiotis Peitsidis ◽  
Makarios Eleftheriades ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Nuchal Translucency ◽  
Chromosome 1 ◽  
Review Of The Literature ◽  
Molecular Cytogenetic ◽  
Prenatal Detection ◽  
Inverted Duplication ◽  
Increased Nuchal Translucency

First trimester three-dimensional ultrasonographic diagnosis of diastrophic dysplasia: a case report and review of the literature

2014 ◽  
Vol 3 (2) ◽  
Author(s):  
Ozgur Ozyuncu ◽  
Mert Turgal ◽  
Aslihan Yazicioglu
Keyword(s):  
Genetic Disorder ◽  
Three Dimensional ◽  
Pregnant Patient ◽  
First Trimester ◽  
Nuchal Translucency ◽  
3D Ultrasound ◽  
Review Of The Literature ◽  
Diastrophic Dysplasia ◽  
First Trimester Scan ◽  
Increased Nuchal Translucency

AbstractDiastrophic dysplasia is a rare genetic disorder characterized by short limbs and deformities of several joints occurring in conjunction with xyphoscoliosis, distinctive abduction of the first metacarpals (hitchhiker thumbs). A 28-year-old pregnant patient was referred due to detection of increased nuchal translucency at the first-trimester scan. We describe a case of diastrophic dysplasia diagnosed by two- and three-dimensional ultrasound and termination of pregnancy at 13 weeks of gestation. This case is the first report in the literature in which 3D ultrasound was used in diagnosis of diastrophic dysplasia as early as the 13th week of pregnancy. We think that prenatal diagnosis of diastrophic dysplasia can be possible even at first trimester.

Hexasomy 13q31.3q34 due to two marker chromosomes with inverted duplication in a fetus with increased nuchal translucency

2015 ◽  
Vol 103 (4) ◽  
pp. 255-259
Author(s):  
Agnieszka Stembalska ◽  
Gizela Jagielska ◽  
Izabela Laczmanska ◽  
Elzbieta Szmida ◽  
Alicja Jarczynska ◽  
...  
Keyword(s):  
Nuchal Translucency ◽  
Marker Chromosomes ◽  
Inverted Duplication ◽  
Increased Nuchal Translucency

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q

2006 ◽  
Vol 140A (14) ◽  
pp. 1594-1600 ◽  
Author(s):  
Chih-Ping Chen ◽  
Shuan-Pei Lin ◽  
Chyi-Chyang Lin ◽  
Yann-Jang Chen ◽  
Schu-Rern Chern ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
De Novo ◽  
Partial Trisomy ◽  
Review Of The Literature ◽  
Molecular Cytogenetic ◽  
Partial Trisomy 5Q
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