Results 21 to 30 of about 5,849,237 (150)
Germinal and somatic trisomy 21 mosaicism : how common is it, what are the implications for individual carriers and how does it come about? [PDF]
, 2010 It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of normal and Trisomy 21 cells within individual tissues, may exist in the human population. This involves both Trisomy 21 mosaicism occurring in the germ line and
Maj Hulten +15 more
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Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2016 The heterogeneous phenotype of known syndromes is a clinical challenge, and harmonized description using globally accepted ontology is desirable. This report attempts phenotypic analysis in a patient of constitutional mosaic trisomy 13 in mesoderm and ...
Fulesh Kunwar +2 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the unbalanced translocation.
Chih-Ping Chen +9 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: To evaluate the correlation of high levels [>2.0 multiples of median (MoM)] of amniotic fluid alpha-fetoprotein (AFAFP) in midtrimester with abnormal fetal outcome.
Tian-Jeau Huang +6 more
doaj +1 more source
Taiwanese Journal of Obstetrics and Gynecology, 2017 [[abstract]]Dear Editor, We previously reported prenatal diagnosis of low-level mosaicism for trisomy 15 at amniocentesis with a favorable pregnancy outcome [1].
Chih-Ping Chen +8 more
openaire +4 more sources
On the origin of trisomy 21 Down syndrome [PDF]
, 2008 Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Nikos Papadogiannakis +13 more
core +1 more source
The kariotype variability in children with Down syndrome from the Odesa region
Zaporožskij Medicinskij Žurnal, 2021 The kariotype variability in children with Down syndrome from the Odesa region The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype ...
N. V. Kulbachuk +3 more
doaj +1 more source
Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis. [PDF]
Journal of Medical Genetics, 1997 A 3.3 year old girl with Prader-Willi syndrome (PWS) and mosaicism for two aneuploidies, 47,XXX and 47,XX,+15, is presented. The triplo-X cell line was found in white blood cells and fibroblasts, the trisomy 15 cell line in 50% of the fibroblasts. Using methylation studies of the PWS critical region and by polymorphic microsatellite analysis, the ...
Devriendt, K. +6 more
openaire +3 more sources
Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13 [PDF]
, 2010 Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few ...
Chih-Ping Chen, Chen, Chih-Ping
core +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2016 Objective: We present a prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.
Chih-Ping Chen +9 more
doaj +1 more source