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4 Meiosis
4 Meiosis
4 Meiosis
ERROR IN THE PROCESS OF MEIOSIS - The presence of this additional genetic
1. Down Syndrome material alters the normal course of
- A genetic disorder that is caused by the development, which results in the
presence of an extra chromosome, development of the characteristics that
which results in varying degrees of are normally associated with the
physical and mental abnormality syndrome
- Physical characteristics of the syndrome NONDISJUNCTION
include a: - the failure of chromosomes to separate
flattened face correctly during mitosis or meiosis
widely spaced and slanted eyes
comparatively smaller head size - When nondisjunction occurs in mitosis,
lax joints the individual cell may die, but the
organism as a whole is not affected.
- Although not present in all cases,
mental retardation is typical. - Nondisjunction DURING ANAPHASE I
OR II OF MEIOSIS causes a pair of
- Those who are affected with the chromosomes to remain together in one
syndrome display a wide variety in gamete, while the other gamete lacks a
mental, behavior and developmental chromosome. These abnormal gametes
capabilities, and will have a high can produce abnormal offspring
propensity to suffer from common
health problems, include a low SEX CHROMOSOME ANEUPLOIDIES
resistance to infection, pronounced 1. XO - Turner Syndrome
hearing loss, gastrointestinal problems, 2. XXY - Klinefelter Syndrome
and heart defects. 3. XYY genotype - taller than average;
after about age 35, extra Y often
- Down syndrome is usually caused by an degenerates and is not passed on to
error in cell division called NON- offspring.
DISJUNCTION. 4. XXX genotype - some developmental
deficiencies; some instances of mental
- There are also TWO OTHER TYPES OF retardation
CHROMOSOMAL ABNORMALITIES that
to a lesser extent are also implicated as
possible causes of Down syndrome.
- Regardless of the type of Down
syndrome which a person may have, all
people with Down syndrome have an
extra, critical portion of the NUMBER 21
CHROMOSOME present in all or some
of their cells.
STANDARD NOMENCLATURE FOR HUMAN KLINEFELTER SYNDROME
GENOTYPES - genetic disorder that occurs in MALES
- genotypes can be written with a who HAVE THREE OR MORE SEX
standard, shorthand format, as follows: CHROMOSOMES.
normal male - 46 XY
normal female - 46 XX - At least two of the chromosomes must
be X chromosomes, and one must be a Y
- ABERRATIONS from the normal pattern chromosome.
CAN BE DESIGNATED BY
changing the chromosome number - The condition causes males to have
and/or the sex chromosome some female-like characteristics
designation, as necessary.
TURNER’S SYNDROME
- a rare chromosomal disorder of
FEMALES (1:2500)
- characterized by short stature and the
lack of sexual development at puberty.
- In some cases of Turner's Syndrome,
however, ONE X CHROMOSOME IS
MISSING from the cells (45,X)
- research studies suggest that
approximately 40 percent of these
individuals may have some Y
chromosomal material in addition to the
one X chromosome.
- In other affected females, both X
chromosomes may be present, but one
may have genetic defects.
- In still other cases, some cells may have
the normal pair of X chromosomes while
other cells do not (45,X/46,XX
MOSAICISM).