Chromosomal

abnormalities/ disorders
Cytogenic Disorders
Prepared by:
Rita E. Penaso MAN, RN
NCM 2208 Lecturer
Chromosomal abnormalities:

• Causes may be hereditary or

nonhereditary. Contributing
factors include:

• a. exposure to teratogens,
such as radiation, certain
drugs, viruses, toxins and
chemicals.
b. advanced maternal age at
conception
Chromosomal abnormalities

• In some instances of genetic disease, the

abnormality, occurs not because of dominant or
recessive gene patterns but through a fault in the
number or structure of chromosomes. When
chromosomes are photographed and displayed, the
result is termed a karyotype. Specific parts of
chromosomes can be identified by karyotyping or by
a process termed Fluorescent In Situ Hybridization
(FISH).
Chromosomal abnormalities

• Chromosome abnormalities can

be numerical or structural. A
numerical abnormality mean an
individual is either missing one
of the chromosomes from a pair
or has more than two
chromosomes instead of a pair.
A structural abnormality means
the chromosome's structure has
been altered in one of several
ways. Aug 15, 2020
Chromosomal abnormalities

• Types of chromosomal abnormalities

include:
a. Numeric abnormalities (usually too
many, too few chromosomes usually
results in miscarriage) in sex hormones
and autosomes (e.g. Klinefelter and
turner syndromes, and trisomy 13, 18,
0r 21 ).
B. structural disorders, such as
deletions ( e.g. cri du chat syndrome)
and translocations, which are
aberrations that result when part of a
chromosome is transferred to a
different chromosome.
Chromosomal abnormalities

• Nondisjunction abnormalities • Nondisjunction results in

Nondisjunction: Failure of paired variations in chromosome
chromosomes to separate (to number
disjoin) during cell division, so that
both chromosomes go to one
daughter cell and none go to the
other. Nondisjunction causes
errors in chromosome number,
such as trisomy 21 (Down
syndrome) and monosomy X
(Turner syndrome).