Genetics Flashcards
(30 cards)
What is the most common cause of aneuploidy?
Meiotic nondisjunction
A variant of translocation in which the long arms of two acrocentric chromosomes are joined with a common centromere and short arms are lost.
Robertsonian translocation
The result of a transverse rather than longitudinal division of a chromosome resulting in two new chromosome.
Isochromosome formation
What is the most frequently occurring chormosomal disorder?
Down Syndrome
This is a condition caused by deletion of short arm of chromosome 5?
Cri du chat Syndrome
What are the characteristics present in a person with DiGeorge Syndrome?
CATCH-22 Cardiac defect Abnormal facies T cell deficiency Cleft palate Hypocalcemia microdeletion of chromosome 22q11
What is the characteristic karyotype present in Klinefelter syndrome?
Karyotype 47XXY
A condition characterized as a complete or partial monosomy of the X chromosome?
Turner syndrome (Karyotype 45,XO)
A phenomenon associated with an earlier onset and more sever manifestations in successive generations?
Anticipation
A condition characterized to have an increased number of CGG tandem repeats?
Fragile X syndrome
A condition with a del (15)(q11q13) transmitted by the father?
Prader-Willi Syndrome
A condition with a del (15)(q11q13) transmitted by the mother?
Angelmann Syndrome
A condition due to an inherited defect in an extracellular glycoprotein called fibrillin-1?
Marfan Syndrome
Most common defect in Ehlers-Danlos Syndrome?
Type III Collagen
A condition characterized by lysosomal accumulation of sphingomyelin due to an inherited deficiency of sphingomyelinase?
Niemann-Pick Disease
Differentiate Niemann-Pick from Tay-Sachs Disease.
Niemann-Pick Disease present with hepatosplenomegaly.
A condition that present morphologically with a distended phagocytic cells with a crumpled tissue paper appearance?
Gaucher Disease (Gaucher cells)
A group of disorder characterized with deficiencies of lysosomal enzymes involved in the degradation of mucopolysaccharides (glycosaminoglycans)?
Mucopolysaccharidoses
A type of mucopolysaccharidoses with defect in enzyme Iduronosulfate sulfatase? What type of inheritance?
Type II Hunter. X-linked recessive.
A deficiency of this enzyme leads to Tay-Sachs disease leading to accumulation of GM2 ganglioside?
Hexosaminidase A
A disorder characterized by deficiency of glucosylceramidase resulting in accumulation of glucocerebroside in the mononuclear phagocyte system?
Gaucher disease
A deficiency of muscle phosphorylase leading to accumulation of glycogen in skeletal muscle?
Type IV Glycogen Storage Disease- McArdle Syndrome
What is deficient in Type III-GSD or Cori Disease?
Debranching enzyme, amylo-1,6-glucosidase
A condition caused by any defect in the protein that make up the branched-chain alpha-keto acid dehydrogenase complex?
Maple Syrup Urine Disease
