KARYOTYPE Flashcards
The chromosome complement of a human cell characterized by the number, size, and morphological features of each chromosome
human karyotype
a condition of the cell, tissue, or organism where one or more whole chromosomes of a genome are absent or present more than twice
Aneuploidy
Absence of one of the chromosomes of a homologous pair
monosomy
Absence of both chromosomes of a homologous pair (2n-2)
nullisomy
- Presence of an extra copy of a chromosome (2 n + 1).
trisomy
- Presence of two extra copies of a chromosome (2 n + 2).
tetrasomy
Duplication of chromosome 21
Human condition characterized by Duplication of chromosome 21 variable degrees of intellectual disability, characteristic facial features, some retardation of growth and development, and an increased incidence of heart defects, leukemia, and other
abnormalities; caused by the duplication of all or part of chromosome 21
DOWN’S SYNDROME
(22II+ XX/XY +I16 or 17 or 18)
Duplication of chromosome 16, 17, or 18
E Trisomy syndrome
Have severe intellectual disability, low-set ears, a short neck, deformed feet, clenched fingers, heart problems, and other disabilities. Few live for more than a year after birth
Edward’s syndrome (Trisomy 18)
Characteristics of this condition include severe intellectual disability, a small head, sloping forehead, small eyes, cleft lip and palate, extra fingers and toes, and numerous other problems. About half of children with trisomy 13 die within the first month of life, and 95% die by the age of 3.
Patau syndrome (Trisomy 13)
(22II+ XX/XY+I13 or 14 or 15)
Duplication of chromosome 13, 14, or 15
D Trisomy syndrome
A condition in which female has
only one X chromosome
Turner’s syndrome
(2211+ XO)
Sex chromosome aneuploidy
A condition in which males are
trisomic for the X-chromosome
Klinefelter’s syndrome
(2211 + XXY)
Sex chromosome aneuploidy
A condition in which females in which there are 3 copies of the X
chromosome
Triplo X’s syndrome
(2211+ XXX)
Sex chromosome aneuploidy
