Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescencein situ hybridization

1994 ◽  
Vol 14 (11) ◽  
pp. 1029-1034 ◽  
Author(s):  
Suzanne L. Reeser ◽  
Alan E. Donnenfeld ◽  
Robert C. Miller ◽  
Beatrice S. Sellinger ◽  
Beverly S. Emanuel ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fluorescencein Situ Hybridization ◽  
Chromosome 22 ◽  
Derivative Chromosome ◽  
Cat Eye Syndrome

scholarly journals Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

2017 ◽  
Vol 14 (1) ◽  
pp. 43-47
Author(s):  
Sang Hee Park ◽  
Sung Han Shim ◽  
Yong Wook Jung ◽  
So Hyun Shim ◽  
Mi Uk Chin ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosome 22 ◽  
Cat Eye Syndrome ◽  
Dependent Probe ◽  
Isodicentric Chromosome

Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction

2003 ◽  
Vol 23 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Tung-Yao Chang ◽  
Chen-Chi Lee ◽  
Li-Feng Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Intrauterine Growth Restriction ◽  
Ring Chromosome ◽  
Growth Restriction ◽  
Chromosome 22 ◽  
Intrauterine Growth ◽  
Cardiovascular Abnormalities

CGH Array and Karyotype as Complementary Tools in Prenatal Diagnosis: Prenatal Diagnosis of a 4q Derivative Chromosome from Maternal 4q;11q Translocation

2018 ◽  
Vol 37 (3) ◽  
pp. 184-190 ◽  
Author(s):  
Cristina Gonzalez ◽  
Miriam Gutierrez Serrano ◽  
Carmen Barbancho Lopez ◽  
Taida Garcia-Riaño ◽  
Vanesa Barea Calero ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Derivative Chromosome ◽  
Cgh Array

Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability

2019 ◽  
Vol 157 (4) ◽  
pp. 220-226
Author(s):  
Yang Yu ◽  
Yuting Jiang ◽  
Xiaonan Hu ◽  
Hongguo Zhang ◽  
Ruizhi Liu ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Prenatal Diagnosis ◽  
Prenatal Testing ◽  
Unknown Origin ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 15 ◽  
Derivative Chromosome ◽  
Mild Intellectual Disability ◽  
Trisomy 18P

Trisomy 18p is a rarely observed chromosomal aberration. Only 31 cases have previously been described in the literature. Trisomy 18p is associated with mild to moderate phenotypic anomalies and intellectual disability. Here, we report on a pregnant woman in whom noninvasive prenatal testing indicated a high risk of fetal trisomy 18. Prenatal diagnosis and karyotyping of the parents were performed and demonstrated that both the mother and the fetus had a derivative chromosome 15 with a segment of unknown origin. Chromosomal microarray analysis and FISH revealed a 14.9-Mb duplication of 18p and detected 3 centromeres of chromosome 18. To our knowledge, this is the first study reporting trisomy 18p due to an unbalanced translocation of 18p onto chromosome 15q showing 2-generation transmission. The results suggest that trisomy 18p can be considered a euchromatic variant.

Characterization of i(18p) in prenatal diagnosis by fluorescencein situ hybridization

1993 ◽  
Vol 13 (5) ◽  
pp. 355-361 ◽  
Author(s):  
Loh-Chung Yu ◽  
John Williams ◽  
Boris B. T. Wang ◽  
Marc Vooljs ◽  
Heinz-Ulrich G. Weier ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fluorescencein Situ Hybridization
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