Results 11 to 20 of about 1,853,756 (208)
Claims-Based Diagnostic Registration Patterns and Clinical Burden of Selected Common Aneuploidies in Korean Children: A Nationwide HIRA Study (2009–2023) [PDF]
ChildrenBackground: Selected common aneuploidies, including Down, Edwards, Patau, Turner, and Klinefelter syndromes, are important causes of congenital anomalies and diverse clinical morbidities.
Hye Eun Kwon +3 more
doaj +2 more sources
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Neurobiology of Disease, 2010 A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders
Amber Hogart +3 more
doaj +3 more sources
Genomic disorders on chromosome 22
Current Opinion in Pediatrics, 2012 Chromosome 22, the first human chromosome to be completely sequenced, is prone to genomic alterations. Copy-number variants (CNVs) are common because of an enrichment of low-copy repeat sequences that precipitate a high frequency of nonallelic homologous misalignments and unequal recombination during meiosis.
Shihui, Yu +2 more
openaire +3 more sources
Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report [PDF]
Iranian Journal of Medical Sciences, 2022 Deletion 9p syndrome is a rare chromosomal abnormality with a wide spectrum of manifestations such as craniofacial dysmorphism, congenital anomalies, and psychomotor delay.
Mozhgan Saberi, Frouzandeh Mahjoubi
doaj +1 more source
Life, 2021 Next-generation sequencing (NGS) is emerging as a new method for the detection of clinically significant copy number variants (CNVs). In this study, we developed and validated rapid CNV-sequencing (rCNV-seq) for clinical application in prenatal diagnosis.
Xiya Zhou +8 more
doaj +1 more source
Fluorescence in situ hybridization in hematology [PDF]
Vojnosanitetski Pregled, 2012 nema
Milošević Ivana +2 more
doaj +1 more source
Clinical and Experimental Obstetrics & Gynecology, 2022 Background: The abnormal course of the umbilical vein and the absence or displacement of the portal vein or ductus venosus may suggest the presence of other shunts.
Jinha Chung +3 more
doaj +1 more source
Complete trisomy 14 mosaicism: first live-born case in Korea [PDF]
Korean Journal of Pediatrics, 2012 Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated ...
Yun Jung Hur, Taegyu Hwang
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To report one case of autosomal recessive juvenile⁃onset Parkinson's diseased (AR⁃JP), and summarize its clinical manifestations, imaging and genetic testing results, treatment and outcome.
ZHANG Yue +4 more
doaj +1 more source
Chromosomal instability in patients with Fanconi anemia from Serbia [PDF]
Vojnosanitetski Pregled, 2014 Background/Aim. Fanconi anemia (FA) is a rare hereditary disease in a heterogeneous group of syndromes, so-called chromosome breakage disorders. Specific hypersensitivity of its cells to chemical agents, such as diepoxybutane (DEB), was used as ...
Ćirković Sanja +4 more
doaj +1 more source