genetic disorders / abnormalities in autosome Flashcards
A genetic disorder that caused by change in the number and structure of autosome in somatic cell are celled?
Abnormalities in Autosome
having missing or an extra autosome in a condition are called?
aneuploidy
if somatic cell has extra chromosome or a third copy of chromosome a condition are called?
trisomy
__________ or ______ occurs when there is a third copy of chromosome 21.
Trisomy 21 or Down syndrome
-small, round skull, flattened nose and face, upward slanting eyes, malformed ears, open mouth, protruding tongue.
Trisomy 21 or Down syndrome
-short fingers, abnormal pattern of palm creases, widely separated first and second toes, poor muscle tone.
-high risk of congenital heart disease mental retarding, abnormality in sex development, and short life span.
Trisomy 21 or Down syndrome
the third copy of chromosome 18 is called?
mosaic Edward’s syndrome
occurs when there is a third copy of chromosome 18.
Trisomy 18 or Edwards syndrome.
trisomy 18 are commonly found in?
girls
sunken fontanel, small, pointed ears, small jaw and mouth, deformed wrists and ankles, heart defects, and malformation of lungs and digestive system.
trisomy 18 or Edwards syndrome
occurs when there is a third copy of chromosome 13.
Trisomy 13 or Patau syndrome
-small skull, unusual wideness at the front and back of the skull, small chin, malformed or low-set ears, cleft lip and palate,
-abnormally small eyes or absence of one or both eyes, extra finger or toes, rocket-bottom feet, heart defects, and mental retardation.
Trisomy 13 Patau syndrome
when an individual is missing one of the chromosome from a pair, the condition called?
monosomy
example of monosomy
cri-du-chat syndrome (cat’s cry)
missing piece on the small arm (the p arm) of chromosome 5
Cri-du-chat (cat’s cry)
