Card Set Information
lccc nursing ob
for Siegmunds Exam 4
What are the different types of chromosomal disorders?
Single gene disorders
: autosomal recessive, autosomal dominant, x-linked
: mutant gene is clinically expressed and masked normal gene
: mutant gene is not clinically expressed
: more than one gene is involved and its caused by an interaction of many genes and environmental factors
What are some causes of chromosomal disorders? What is the most significant cause?
Radiation, drugs, viruses, toxins
Most significant cause is Maternal age, which significantly increases every year after 35
What is monosomy?
Absence of a chromosome
Incompatible with life except sex chromosomes
What is Trisomy? What are three common types?
Presence of an extra chromosome
: down's syndrome
: Patau's syndrome
: Edward's sydrome
What is mosaicism?
A mutation that occurs after conception andmost commonly affects the sex chromosomes
some genes are affects and others are not, leading to a mixing of expressions
Autosomal is a classic sign of high functioning down's
Can be either a deletion or additional of chromosome material
What is a Barr Body?
It is an "extra or unused" x chromosome
For example, women have XX and 1 barr body
Men can XY and have no barr body
What is Turner syndrome?
Female is missing an X chromosome- XO
No barr body
Loss of ovarian function and puberty
Small structure, poor bone development
Usually diagnosed by age 5
What is XXX?
Female has an extra barr body
Increased risk of developmental and motor skill delay
What is Intra Cytoplasmic Sperm injection (ICPI)?
Sperm injected directly into the ovum
May increase risk of chromosomal and congenital anomalies due to overriding natural safe guards preventing fertilization
What is autosomal dominant inheritance?
Affects males and females equally
If abnormal gene is present the person has the disease
May be inherited or a new mutation
50% chance of passing onto children
What is autosomal recessive inheritance?
Individuals must have two abnormal genes to be affected
Affect men and women equally
Parents can be carriers or have the disease
Carrier is heterozygous, meaning they have only one abnormal gene and are clinically normal
What is x-linked recessive inheritance?
Abnormal gene is on the x chromosome
Female is the carrier and male gets disease
No male-to-male transfer