Dermatoglyphic Peculiarities in Down’s Syndrome Detection of Mosaicism and Balanced Translocation Carriers

1981 ◽  
pp. 41-56 ◽  
Author(s):  
A. Rodewald ◽  
K. D. Zang ◽  
H. Zankl ◽  
M. Zankl
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Balanced Translocation

scholarly journals Application of Chromosome Microarray Analysis and Karyotype Analysis in Diagnostic Assessment of Abnormal Down's Syndrome Screening Results

2021 ◽  
Author(s):  
Han Kang ◽  
Lingxi Wang ◽  
Xingyu Li ◽  
Chonglan Gao ◽  
Yamei Xie ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Microarray Analysis ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Balanced Translocation

Abstract Background: Although screening for fetal aneuploidy with the use of cell-free DNA obtained from maternal plasma is highly effective, biomarkers screening is in extensive use in economically underdeveloped areas and poor population. This study aims to explore the application value of chromosomal microarray analysis (CMA) and karyotype analysis in prenatal diagnosis for pregnant women with abnormal Down’s syndrome (DS) screening results.Methods: The study recruited 813 pregnant women with abnormal DS screening results from Chengdu Women’s and Children’s Central Hospital. They underwent amniocentesis to obtain fetal amniotic fluid for CMA and G-band karyotype analysis. An Affymetrix CytoScan 750 K Array chip was used for CMA analysis according to the manufacturer’s instructions.Results: In total, CMA identified 21/813 abnormal results, which was more efficient than karyotype analysis(10/813, P<0.001.) CMA is equivalent to traditional karyotype analysis for the prenatal diagnosis of aneuploidies. However, CMA identified 1.60% more copy number variants(CNVs) than karyotype analysis. These pathogenic/likely pathogenic(P/LP) CNVs ranged from 159Kb deletion to 3616Kb deletion. 53.8% of them were recurrent pathogenic CNVs associated with risk of neurodevelopmental disorders. CMA identified 7 variants of uncertain significance (VUS) results, including 6 microduplication and 1 microdeletion, with the size ranged from 840kb-1484kb. Karyotype analysis identified 2 mosaic sex chromosome aneuploidy, 2 balanced translocation and 1 mosaic balanced translocation, which could not be identified by CMA. Conclusions: Performing both CMA and karyotype analysis simultaneously is more beneficial to pregnant women with abnormal DS screening results.

Primary correction (PC) versus correction after palliation (CAP) in children with endocardial cushion defects and Down's syndrome (DS)

2004 ◽  
Vol 52 (S 1) ◽  
Author(s):  
A Hakami ◽  
R Cesnjevar ◽  
H Singer ◽  
A Schulz ◽  
A Koch ◽  
...  
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Endocardial Cushion

Down's Syndrome and Psoriasis Vulgaris.

1991 ◽  
Vol 53 (4) ◽  
pp. 680-683 ◽  
Author(s):  
Yoshihiro MAEKAWA ◽  
Hiroshi KATSUKI
Keyword(s):  
Psoriasis Vulgaris ◽  
Down's Syndrome ◽  
Down’S Syndrome

Acute leukemia characterized by trisomy 8 in down's syndrome

Pathology ◽  
1985 ◽  
Vol 17 (1) ◽  
pp. 111-114 ◽  
Author(s):  
Alan F. Broomhead ◽  
Y.L Kwan ◽  
N.A. Zell ◽  
P.R.L. Lam-Po-Tang ◽  
D. O'Gorman Hughes
Keyword(s):  
Acute Leukemia ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Trisomy 8
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