Results 81 to 90 of about 6,628 (168)

Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases

Frontiers in Molecular Biosciences
BackgroundNon-invasive prenatal testing (NIPT) has demonstrated robust performance in detecting common trisomies and copy number variations. However, its clinical utility for rare chromosomal abnormalities (RCAs) remains controversial due to low positive
Haimei Qi, Haijun Chen, Zhuling Zhang, Jinhui Gan, Huifeng Liu, Xianping Yuan, Fuyu Luo, Junkun Chen, Shichun Shen   +8 more
doaj   +1 more source

Uniparental Disomy [PDF]

, 2020
openaire   +1 more source

Hydatidiform Mole-Between Chromosomal Abnormality, Uniparental Disomy and Monogenic Variants: A Narrative Review. [PDF]

Life (Basel), 2023
Florea A, Caba L, Grigore AM, Antoci LM, Grigore M, Gramescu MI, Gorduza EV.   +6 more
europepmc   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Genetic counseling of non-invasive prenatal testing (NIPT) trisomy 7-positive pregnancies

Taiwanese Journal of Obstetrics & Gynecology
Trisomy 7 is the most common observed type of rare autosomal trisomies (RATs) detected at expanded genome-wide non-invasive prenatal testing (NIPT). Genetic counseling of NIPT trisomy 7-positive pregnancies remains to be not easy because the parents may ...
Chih-Ping Chen
doaj   +1 more source

Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes. [PDF]

Front Genet, 2023
Chen Q, Chen Y, Shi L, Tao Y, Li X, Zhu X, Yang Y, Xu W.   +7 more
europepmc   +1 more source

Influence and Analysis of Uniparental Disomy on Forensic DNA Tests [PDF]

Fayixue Zazhi, 2020

doaj   +1 more source

Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses. [PDF]

Mol Cytogenet, 2023
Qin S, Wang X, Wang J, Xi N, Yan M, He Y, Ye M, Zhang Z, Yin Y.   +8 more
europepmc   +1 more source

Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth. [PDF]

Front Genet, 2023
Bu X, Li X, Peng C, Li H, Zhou S, Zhu Z, He J, Linpeng S.   +7 more
europepmc   +1 more source

Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease. [PDF]

Front Genet, 2023
Liu YD, Tan DD, Song DY, Fan YB, Fu XN, Ge L, Wei W, Xiong H.   +7 more
europepmc   +1 more source