Abnormal and Normal Karyotype Flashcards
cell that is missing a single chromosome or having an extra
Aneuploidy
A normal chromosome number is Called
Euploid
common in aneuploidy because
development of the brain is so complex and of such long duration that nearly any chromosome-scale
disruption affects genes whose protein products affect the
brain.
Mental retardation
Most children born with the wrong number of chromosomes have an _______ Instead of ______
Trisomy, monosomy
meiotic error that causes aneuploidy is called
Nondisjunction
triploidy , trisomy,
monosomyand mosaicism .
Numerical aberrations
deletions, duplications, inversions, ring
formations, and translocations.
STRUCTURAL ABBERATIONS
A portion of the chromosome is missing or deleted
Deletions
which is caused by
partial deletion of the short arm of chromosome 4
Wolf-Hirschhorn syndrome
terminal 11q deletion disorder
Jacobsen syndrome
Give 4 related disease or illness associated with deficiency and deletions
Chronic Myelogenous Leukemia
Wolf Hirschhorn syndrome
Jacobsen syndrome
Cri-du-chat syndrome
specific deletion in _____ produces a condition, called
chromosome no. 22, ‘Philadelphia 22’
deficiency in_______ creates _____
chromosome no. 5, ‘Cri-du-chat’ (cry-
of-cat) syndrome
Two types of deletions are found:
Terminal and Interstitial
Chromosome breaks an A single
break near the end of the
chromosome. Described in maize
but otherwise not common.
Terminal deletion
Chromosome breaks and reunites
but the part is lost from in
between.
Interstitial deletion:
A portion of the chromosome is duplicated,
resulting in extra genetic material.
Duplication
caused by duplication of the gene encoding peripheral
myelin protein 22 (PMP22) on chromosome 1
Charcot-Marie-Tooth disease type 1A
segments from two
different chromosomes have been exchanged.
Reciprocal translocation
an entire
chromosome has attached to another at the
centromere
Robertsonian translocation
