9. interphase
The stage between two successive divisions of a cell
nucleus in which:
1- the biochemical and physiologic functions of the
cell are performed
2- replication of chromatin occurs.
Syn: karyostasis.
16. kinetochore :
A specialized condensed region of each
chromosome that appears during mitosis
where the chromatids are held together to
form an X shape
21. Down syndrome
a chromosomal dysgenesis syndrome consisting of a variable
constellation of abnormalities caused by triplication or
translocation of chromosome 21.
The abnormalities include mental retardation, retarded
growth, flat hypoplastic face with short nose, prominent skin
folds, small low-set ears with prominent antihelix, fissured and
thickened tongue, laxness of joint ligaments, pelvic dysplasia,
broad hands and feet, stubby fingers, and transverse palmar
crease. Lenticular opacities and heart disease are common. The
incidence of leukemia is increased and Alzheimer disease is
almost inevitable by age 40. Syn: trisomy 21 syndrome.
22. Mongolism:
A congenital disorder caused by having an
extra 21st chromosome; results in a flat face
and short stature and mental retardation
23. Turner syndrome
a syndrome with chromosome count 45 and only one
X chromosome; buccal and other cells are usually sex
chromatin-negative;
anomalies include dwarfism, webbed neck, valgus of
elbows, pigeon chest, infantile sexual development,
and amenorrhea; the ovary has no primordial follicles
and may be represented only by a fibrous streak;
some individuals are chromosomal mosaic, with two
or more cell lines of different chromosome
constitution; seen in many animal species, in the
meadow vole it is the normal female state. Syn: XO
syndrome.
24. Klinefelter syndrome
a chromosomal anomaly with chromosome count 47,
XXY sex chromosome constitution; buccal and other
cells are usually sex chromatin positive; patients are
male in development but have seminiferous tubule
dysgenesis, elevated plasma and urinary
gonadotropins, variable gynecomastia, and
eunuchoid habitus; some patients are chromosomal
mosaics, with two or more cell lines of different
chromosome constitution; the male tortoise-shell cat
(calico cat) is an animal model. Syn: XXY
syndrome.
29. ًشکلوو بیالبیل کروموزومووو د ًت موقعیت سىترومیر د وظر د
:
۱
-
Metacentric
:
َځک لري ګاى ّباز هساّي ٍّد کرّهْزّم َب کې حالت دې َپ
سٌترّهیر چې
َبرخ هرکسي َپ یې
لري هْقعیت کې
.
Having two equal arms because of the median
position of the centromere
30. ۲
-
Submetacentric
یا
submetacentric chromosome
:
سنترومیر دلته
کې مرکز په
بازو کروموزوم د بلکه لري نه موقعیت
ګان
مساوي غیر دوو په
ویشي برخو
.
a chromosome with the centromere so placed that it
divides the chromosome into two arms of strikingly
unequal length.
32. ۴
-
Telocentric
یا
telocentric
chromosome
:
سٌترّهیر کې شکل دې َپ
کې ًِایت ٍْی َپ
لري هْقعیت
.
a chromosome with a terminal centromere; such
chromosomes in humans are unstable and arise
by misdivision or breakage near the centromere
and are usually eliminated within a few cell
divisions.
33.
34. د چې لري بازوګان اوږده او لنډ کروموزومونه
Shart arm
او
Long arm
یادیږي سره نومونو په
.
د ګان بازدو لنډ ًالمعمو
p
حرف
د بازوګان اوږده او واسطه په
q
کیږي ښودل واسطه په حرف
.
40. وقص کې ساختمان ًپ
Structural abnormalities
:
1. Deletion: the loss or absence of one or more
nucleotides from a chromosome.
2. Translocation : an exchange of chromosome parts
3. Iso-chromosomes:
A chromosomal aberration that arises as a result of transverse rather
than longitudinal division of the centromere during meiosis; two
daughter chromosomes are formed, each lacking one chromosome
arm but with the other doubled.
41. 4- Inversion :
a kind of mutation in which the order of the genes in a
section of a chromosome is reversed.
باًذې کرّهْزّم َپ
ًَْهْقعیت ًٌْْجی د
ّي شْي َسرچپ
5- Non dis junction : Meiosis in which there is a
failure of paired homologous chromosomes to
separate; results in an abnormal number of
chromosomes in the daughter cells
دلته
دوه
ورته
کروموزومونه
له
یو
بل
څخه
نه
بېلېږي
په
پایله
کې
حجرات
د
کروموزومونو
غیر
نارمل
تعداد
لري
.
42. Numerical abnormalities
1- Monosomy
2- Trisomy
3- Polysomy :
State of a cell nucleus in which a specific chromosome is represented more
than twice. Cells containing three, four, or five homologous chromosomes
are referred to, respectively, as trisomic, tetrasomic, or pentasomic. Cf.
polyploidy.
4- Complex aneuploidy:
Having an abnormal number of chromosomes not an exact
multiple of the haploid number, as contrasted with abnormal
numbers of complete haploid sets of chromosomes, such as
diploid, triploid, etc. (one chromosome set is incomplete)
67. Turner syndrome
a syndrome with chromosome count 45 and only one X
chromosome; buccal and other cells are usually sex chromatin-
negative;
anomalies include:
dwarfism, webbed neck, valgus of elbows, pigeon chest,
infantile sexual development, and amenorrhea; the ovary has
no primordial follicles and may be represented only by a fibrous
streak; some individuals are chromosomal mosaic, with two or
more cell lines of different chromosome constitution; seen in
many animal species, in the meadow vole it is the normal
female state. Syn: XO syndrome.
68. Klinefelter syndrome
a chromosomal anomaly with chromosome count 47, XXY sex
chromosome constitution;
buccal and other cells are usually sex chromatin positive;
patients are male in development but have seminiferous tubule
dysgenesis, elevated plasma and urinary gonadotropins,
variable gynecomastia, and eunuchoid habitus; some patients
are chromosomal mosaics, with two or more cell lines of
different chromosome constitution; the male tortoise-shell cat
(calico cat) is an animal model. Syn: XXY syndrome.
69. Down syndrome
a chromosomal dysgenesis syndrome consisting of a variable
constellation of abnormalities caused by triplication or translocation of
chromosome 21.
The abnormalities include:
mental retardation, retarded growth, flat hypoplastic face with short
nose, prominent epicanthic skin folds, small low-set ears with
prominent antihelix, fissured and thickened tongue, laxness of joint
ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, and
transverse palmar crease. Lenticular opacities and heart disease are
common. The incidence of leukemia is increased and Alzheimer disease
is almost inevitable by age 40. Syn: trisomy 21 syndrome.
70. Chromatin exists in two forms:
1- euchromatin, is less condensed and can be
transcribed.
2- heterochromatin, is highly condensed and is
typically not transcribed.