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WorksheetsChromosomal diseases
Total questions: 26
Worksheet time: 15mins
Give an example of a chromosomal abnormality
phenylketonuria
albinism
Marfan syndrome
Patau syndrome
What changes in karyotype observed in Down syndrome?
trisomy 13
trisomy 18
trisomy 21
trisomy X chromosome
Identify the formula of the karyotype in Cri du chat syndrome:
46,XX, 5p-
47,XX, 18+
47,XY, 13+
47, XXY
Determine chromosomal diseases that are caused by a change in the number of autosomes:
Edwards syndrome
Turner syndrome
Klinefelter syndrome
Cri du chat syndrome
Give an example of a chromosomal abnormality
Wolf–Hirschhorn syndrome
Tay–Sachs disease
Mucopolysaccharidoses
Sickle cell disease
What changes in karyotype observed in Patau syndrome?
trisomy 13
trisomy 18
trisomy X chromosome
trisomy 21
Identify the formula of the karyotype in Turner syndrome:
46,XX, 5p-
47,XX, 18+
45, XO
47, XXY
Identify chromosomal disease which are associated with an increase in the number of sex chromosomes:
Cri du chat syndrome
Klinefelter syndrome
Edwards syndrome
Turner syndrome
What syndrome are characterized by the following symptoms: microcephaly, sloping forehead, narrow eye slits, nose defect, low-set ears and deformed, cleft lip and cleft palate, polydactyly (extra digits), heart defects, kidney defects?
Patau syndrome
Down syndrome
Marfan syndrome
Turner syndrome
Determine the possible karyotype formula according to the following features: short stature, short neck, barrel-shaped chest, delayed sexual development.
46,XX, 5p-
47,XX, 18+
45, XO
47,XX, 21+
What kind of syndrome below caused by the rearrangement in chromosome?
Wolf–Hirschhorn syndrome
Turner syndrome
Klinefelter syndrome
Marfan syndrome
What caused to develop of trisomy?
point mutation
deletion
nondisjunction of chromosomes
Transition
Identify the formula of the karyotype in Klinefelter syndrome:
46,XX, 5p-
47,XX, 18+
45, XO
47, XXY
Identify the formula of the karyotype in Edwards syndrome:
46,XX, 5p-
47,XX, 18+
47,XY, 13+
47, ХХ, 21+
What syndrome are characterized by the following symptoms: slanted eyes, a round face with a flat profile, small nose, а missing nose bone, epicanthus folds, small ears , a large tongue that may protrude from the mouth, heart defects, clinodactyly?
Patau syndrome
Down syndrome
Edwards syndrome
Turner syndrome
1. Identify the possible formula of karyotype according to the following symptoms: tall, incomplete pubertal development with eunuchoid body habitus, enlarged breast tissue (gynecomastia), less facial and body hair compared with other teens, sexual infantilism
46,XX, 21+
47,XX, 18+
45, XO
47, XXY
Polyploidy is…
diploid set of chromosomes in somatic cell
multiple increasing of haploid set of chromosome
point mutation
rearrangement in chromosome
Triploidy is a condition whereby cells contain ** chromosomes
(a)
Aneuploidy occurs as a result of nondisjunction during *******
(a)
********
(a)
***********
(a)
round facies, a catlike cry, congenital heart defects, microcephaly,
and mental retardation.
short stature, low-set ears, ocular hypertelorism, ptosis, low
posterior hairline, webbed neck due to a remnant of a fetal cystic hygroma, congenital
hypoplasia of lymphatics causing peripheral edema of hands and feet, shield chest,
pinpoint nipples, congenital heart defects, aortic coarctation, female hypogonadism,
ovarian fibrous streaks (i.e., infertility), primary amenorrhea, and absence of secondary
sex characteristics.
profound mental retardation,
congenital heart defects,
cleft lip and/or palate, omphalocele, scalp defects, and polydactyly.
mental retardation,
congenital heart defects, small facies and
prominent occiput, overlapping fingers, cleft lip and/or palate, and rocker-bottom heels.
moderate mental retardation (the leading cause of mental
retardation), microcephaly, microphthalmia, colobomata, cataracts and glaucoma, flat
nasal bridge, epicanthal folds, protruding tongue, simian crease in hand, increased
nuchal skin folds, appearance of an “X” across the face when the baby cries, and congenital
heart defects.
