2. CHROMOSOMAL
DISORDERS
•1➡️ what is chromosomal dissorder
•
• Chromosomal disorders are conditions caused by abnormalities in the
structure or number of chromosomes. These disorders can result in
various health issues, developmental delays, or disabilities,
depending on the specific chromosomal abnormality. Examples
include Down syndrome, Turner syndrome, Klinefelter syndrome, and
Cri du chat syndrome.
3.
4. ANEUPLOIDY
•2➡️ aneuploidy
•
•Aneuploidy is a genetic condition characterized by an
abnormal number of chromosomes in a cell, typically
resulting from errors in cell division such as
nondisjunction. It can lead to various health problems
and developmental disorders.
5.
6. AUTOSOMAL
ANOMALIES
•3➡️ autosomal anomalies
•
• Autosomal anomalies refer to genetic abnormalities or disorders
that occur due to changes or mutations in the autosomal
chromosomes, which are non-sex chromosomes. These anomalies
can affect various aspects of health and development, and they are
typically inherited in an autosomal recessive, autosomal dominant,
or X-linked manner. Examples include Down syndrome, Turner
syndrome, and cystic fibrosis.
7.
8. SEX CHROMOSOMAL
ANOMALIES
•4➡️sex chromosomal anomalies
•
• Sex chromosomal anomalies, also known as sex chromosome
disorders, are genetic conditions caused by abnormalities in the
number or structure of the sex chromosomes. These anomalies
can lead to a wide range of developmental and reproductive issues.
Examples include Turner syndrome (monosomy X), Klinefelter
syndrome (XXY), and Triple X syndrome (XXX).
9.
10. DOWN SYNDROME
•5➡️ what is down syndrome
•
•Down syndrome is a genetic disorder caused
by the presence of an extra copy of
chromosome 21.
11.
12. CLINICAL FEATURES OF
DOWN SYNDROME
•Clinical features of down syndrome
•
•1➡️flattened nasal bridge, a protruding tongue, small
ears, and a short neck.
13.
14. TURNER SYNDROME
•6➡️ what is turner syndrome
•
•Turner syndrome is a genetic condition that affects
females, characterized by the absence of part or all of
one X chromosome, leading to various developmental
and medical issues.
15.
16. CLINICAL FEATURES OF
TURNER SYNDROME
•Climical features of turner syndrom
•Short stature
•
•Webbed neck
•
•Low hairline at the back of the beck
•
•Broad chest with widely spaced nipples
•
