TY - BOOK ID - 118328612 TI - Human Chromosome Atlas AU - Behrend, Claudia AU - Karimzad Hagh, Javad AU - Mehdipour, Parvin AU - Schott, Heinz AU - Schwanitz, Gesa AU - SpringerLink (Online service) PY - 2023 SN - 9783031105883 PB - Cham Springer International Publishing :Imprint: Springer DB - UniCat KW - Medical genetics. KW - Diagnosis. KW - Chromosomes. KW - Genetic disorders. KW - Genetic counseling. KW - Medical Genetics. KW - Genetic Service. KW - Health counseling KW - Congenital diseases KW - Disorders, Genetic KW - Disorders, Inherited KW - Genetic diseases KW - Hereditary diseases KW - Inherited diseases KW - Diseases KW - Medical genetics KW - Chromosome theory KW - Cell nuclei KW - Crossing over (Genetics) KW - Cytotaxonomy KW - Genetics KW - Karyokinesis KW - Linkage (Genetics) KW - Examinations, Medical (Diagnosis) KW - Medical diagnosis KW - Medical examinations (Diagnosis) KW - Medical tests (Diagnosis) KW - Clinical medicine KW - Prognosis KW - Symptoms KW - Clinical genetics KW - Heredity of disease KW - Human genetics KW - Medical sciences KW - Pathology KW - Genetic disorders KW - Diagnosis KW - Testing KW - Genetic aspects KW - Human chromosomes. KW - Chromosomes UR - https://www.unicat.be/uniCat?func=search&query=sysid:118328612 AB - Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III, demonstrate the spectrum of the different types of chromosome abnormalities by a combination of karyogram and ideogram, it compares the expressiveness of different banding techniques, and it gives the karyotype formula and describes morphological peculiarities of each presented case. The final part, provides a detailed description of variants of non-coding DNA and focuses on potential problems in detecting aberrations and mentions necessary additional investigations and peculiarities, which have to be taken into account when counseling carriers of a chromosome aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics. ER -