Results 41 to 50 of about 4,368 (158)
MQF-PCR results for patients with microdeletion and microduplication syndromes.
, 2013 MQF-PCR results for patients with microdeletion and microduplication syndromes.
Martin Stofanko (236917) +5 more
core +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Microduplication of 3p26.3 Implicated in Cognitive Development [PDF]
, 2014 We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes.
Alice M. George +7 more
core +1 more source
Epilepsia Open, EarlyView.Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina +21 more
wiley +1 more source
Reciprocal microdeletion and microduplication on human chromosomes [PDF]
, 2015 Nonallelic homologous recombination (NAHR) mediated by LCRs (low-copy repeats) produces chromosomal rearrangements in the human genome. Those rearrangements include microdeletion and microduplication. Those mutations cause a great number of syndromes and
Sluková, Lucie
core
Journal of Clinical Laboratory Analysis, EarlyView.This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie +7 more
wiley +1 more source
22q11.2 Microduplication: An Enigmatic Genetic Disorder
, 2018 Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes diagnosis difficult. In the cases that are
Ranjit Kylat
core +1 more source
Stem Cell Research, 2021 Xq25 microduplication syndrome is a recognized syndrome presenting intellectual disability and distinctive facial appearance. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of an 8-year-old boy ...
Xiaomeng Yang +8 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the analytical and clinical performance of fetal fraction (FF) enriched genome‐wide noninvasive prenatal testing (GW‐NIPT) for the detection of clinically relevant copy number variants (CNVs) down to 1 Mb. Methods We retrospectively analyzed 10,501 singleton pregnancies tested with FF enrichment‐based GW‐NIPT between ...
Karmen Vaiküll +6 more
wiley +1 more source
16p13.11 microduplication with growth retardation and developmental disorders: a case report and literature review [PDF]
Short stature and growth retardation is a common condition in children. Genetic variations are responsible for many cases of short stature of unknown etiology.
Inukai, Takeshi +3 more
core +1 more source