Child Development - Genes and Disorders

What test can test for genetic disorders?

Amniocentesis

How many chromosomes are there in each cell?

23 pairs of chromosomes, 46 total

What types of genes are there

Dominant (stronger) games which produce characteristics in the individual and recessive (weaker) genes which do not produce the characteristics unless transmitted by both parents

Who determines the sex for the child?

father

What does an XY combo produce?

a male child

What does an XX combo produce?

a female child

What are the cause of birth defects?

• Genetics: one or both parents are carrying a defensive gene

• Environmental: Poor nutrition, disease or infections mother has during pregnancy

What can be an error in a chromosome?

Baby has too few or too many or has a broken or rearranged chromosome which, usually leads to down syndrome

What can smoking during pregnancy do?

• reduces O2 levels in the baby

• can lead to low birth weight and premature brith

• doubles the risk of SIDS (Sudden Infant Death Syndrome)

What can drinking alcohol effect during pregnancy?

• can cause FAS (Fetal Alcohol Syndrome)

• FAS can lead to learning problems, growth issues. face and head abnormalities, and brain damage

How much alcohol is allowed during pregnancy?

NONE

What is SIDS?

• sudden infant death syndrome

• unexpected death of a healthy baby under 1yrs old

• most common between 2-4 months of age

• risk factors include smoking during pregnancy

• can be reduced by having babies sleep on they backs

What is Clef lip/pallet?

• appears at birth

• roof of the mouth is not jointed

• can be treated with surgeries

What is Clubfoot?

• foot ankle twisted making it impossible to walk

• treated with surgery and shoes

• looks like a “golf club”

• present at birth

What is colorblindess?

• sex linked males

• present at birth

• inability to distinguish certain colors

What is Cystic Fibrosis?

• recessive gene

• present at birth; will show up later on

• lack of an enzyme so, mucus builds up in lungs and digestion

• treated with drugs and pounding onto the back

What is down syndrome?

• error in the 21st chromosome

• varies from mild to severe

• surgery from heart defect

• more common to young or older parents or genetic tendency.

What is Hemophilia?

• sex linked; males

• present at birth

• genetic

• absence of a clotting factor

• treated with transfusions and avoiding injuries

What is Muscular Dystrophy?

• x linked genetic

• weakening and wasting away of muscles; sometimes death

• incurable

What is Tay-Sachs Disease?

• more common in Jewish decent

• diagnosed by six months; dies around 3-5 yrs old

• genetic, recessive

• inability to break down fatty deposits in the brain: nervous system shuts down

What is Cerebral Palsy?

• brain malformed injured at birth or damaged later in life

• not inherited

• affects brain’s ability to control muscles

What is Spina Bifida?

• many factors can cause it, current research links to Folic acid

• can be slight cyst on spine to open spine; legs are paralyzed, poor bladder control

• treated with surgery and therapy

What is monozygotic?

identical twins - 1 egg and 1 sperm

• fertilized ovum splits into two identical cells - always the same gender

What is dizygotic?

fraternal twins - 2 eggs and different sperm

• will look different - may be different or same gender