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19 Cards in this Set

  • Front
  • Back
an inactive X chromosomes that can be seen in the interphasee nucleus as a darkly staining small mass in contact with nuclear membrane is
Barr Body
having two sets of chromosomes
possessing half the diploid or normal number of chromosomes foun din somatic or body cells
error in meiosis or mitosis in which a cell aquires a chromosomes complemenent that is not an exact multiple of 23
any exact multiple of hte haploid number
what is mosaicism?
mitotic errors in early development that give rise to two or more populations of cells in the same individual
a segment of one chromosome is transferred to another
refers to a rearrangement that involves two breaks within a single
with inverted reincorporation of the segment
refers to a loss of a portion of a chromosome
the most common of the chromosomal disorders and a major cause of mental retardation is
trisomy 21 or Down Syndrome
a female child with short stature webbing of hte neck streak ovaries widely spread niupples and coarctation of the aorta
45X or Turner Syndrome
Klinefelter Syndrome
Klinefelter syndrome is male hypogonadism that occurs when there are two or more X chromosomes and one or more of the Y chromosomes
implies the presence of both ovarian and testicular tissue
represents a disagreement between the phenotypic and gonadal sex
Marfan Syndrome
disorder of connective tissue of the body manifested principally by changes in the skeleton eyes and cardiovascular system
Cafe au lait
cutaneous pigmentation and macules are associated with neurobribormatosis
Niemann-Pick Disease
characterized by lysomomal accumulation of sphinogomyelin resulitng from of inherited deficiency of sphingomyelinase
Gaucher Disease
autosomal recessive disorder resulting from mutation in the gene encoding glucocerebrosidase it is the most common lysomsal storage disorder