Notes in 05. Complex Multigenic Disorders and Chromosomal Disorders

To Subscribe, use this Key

Status	Last Update	Fields
Published	11/19/2024	Complex Multigenic Disorders Characteristics:A gene that has at least {{c1::two}} alleles thatOccurs at 1% per populationPolymorphicEach variant allel…
Published	11/19/2024	Aneuploidy:Error occurs in {{c1::meiosis}} or {{c2::mitosis}} and a cell acquires a chromosome complement that is not an exact multiple of {{c3::23}}C…
Published	11/19/2024	Mosaicism:Mitotic errors in early development giving rise to two or more populations of cells with different {{c1::chromosomal complement}} in the sam…
Published	11/19/2024	Deletion:Loss of a {{c1::portion}} of a chromosome{{c2::Ring}} chromosome - a special form of deletion
Published	11/19/2024	Anaphase lag:One {{c1::homologous}} chromosome in meiosis or one {{c2::chromatid}} in mitosis lags behind and is left out of the cell nucleusResults:{…
Published	11/19/2024	This pertains to the rearrangement that involves two breaks within a single chromosome with reincorporation of the inverted, intervening segment
Published	11/19/2024	Identify the term:One arm of a chromosome is lost and the remaining arm is duplicated, resulting in a chromosome consisting of two short arms only or …
Published	11/19/2024	Identify the term:Segment of one chromosome is transferred to another
Published	11/19/2024	This is the most common chromosomal disorder
Published	11/19/2024	Trisomy 21 (Down Syndrome):Most common of the chromosomal disorderMajor cause of {{c1::intellectual}} disability{{c2::Maternal age}} has a strong infl…
Published	11/19/2024	Cytogenetic Disorders Involving Autosomes:Identify:
Published	11/19/2024	Cytogenetic Disorders Involving Autosomes:Identify:
Published	11/19/2024	Cytogenetic Disorders Involving Autosomes:Identify:
Published	11/19/2024	Chromosome 22q11.2 Deletion Syndrome:Include congenital {{c1::heart defects}}, abnormalities of the {{c2::palate}}, facial {{3::dysmorphism}}, develop…
Published	11/19/2024	Klinefelter Syndrome:Male hypogonadismOccurs when there are two or more {{c1::X}} chromosomes and one or more {{c2::Y}} chromosomesGenetic cause of re…
Published	11/19/2024	Turner Syndrome:Turner syndrome results from {{c1::complete or partial monosomy}} of the X chromosome and is characterized by {{c2::hypogonadism}} in …
Published	11/19/2024	Hermaphroditism and Pseudohermaphroditism:Genetic sexDetermined by the presence or absence of a {{c1::Y}} chromosomeGonadal sexHistologic characterist…
Status	Last Update	Fields