Chromosmes Genes And Disease Flashcards
Cytogenetic is the study of
Chromosome
Congenital disease implies that
The diesease is from birth
What is used in studying chromosomes ( cytogenetic)
Karyotyping
The most used stain in staining chromosome in karyotyping is a
Giasma stain
Down syndrome is
Trisomy 21
Extra chromosome at position 21
Down syndrome is majorly gotten which parent
Mother side
Trisomy 21 is called
Down syndrome
Trisomy 18 is called
Edward syndrome
Trisomy 13 is called
Patau syndrome
Flat face
Protruded tongue
Mental retardation
Is a characteristic of what chromosomal defect
Trisomy 21 Down syndrome
Polydactyl and cleft lip palate is a characteristic of what trisomy
Trisomy 13 patau syndrome
Deletion of 5p is called
Cri du chat syndrome
Cri du chat syndrome is
A deletion at 5p
Why was it called Cri du chat syndrome
Cause the major characteristic is the child crying like a cat
Lyonization refers to
Inactivation of a X chromosome
Turner syndrome is
When a female is only born with one X chromosome
Ie 45X. Instead of 46XX
Kleinfelter syndrome is
An extra X chromosome in the male or female sex gene
Kleinfelter syndrome cause what majorly in male
Infertility
Point mutation is
When a single gene is deleted or affected
Missense mutation is when
The change of a dna cause the encoding of a different amino acid in that position
Eg sickle cell where guanine is valine
