Results 11 to 20 of about 314,830 (333)
The Chromosome Disorders: An Introduction for Clinicians [PDF]
Archives of Pediatrics & Adolescent Medicine, 1970 This is the second edition in five years of a brief introductory text in human cytogenetics. The book is explicitly written for clinicians without background in cytology. Accordingly, the first 44 of the 163 pages are devoted to basic cytogenetics (part 1), entitled "the grammar of cytogenetics." This part provides the background necessary for an ...
J. L. Hamerton
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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
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The Chromosome Disorders. An Introduction for Clinicians [PDF]
Journal of Medical Genetics, 1967 P. E. Polani
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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
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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
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Fluorescence in situ hybridization in hematology [PDF]
Vojnosanitetski Pregled, 2012 nema
Milošević Ivana +2 more
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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
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Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report
Clinical Case Reports, 2022 Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines.
Wilberg A. Moncada Arita +6 more
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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
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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
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