The Basics
A recognizable pattern that looks a certain way.
What is a syndrome?
I might present with flat occiput, joint hyperflexibility, hypotonia, protruding tongue, thyroid disorders
What is Trisomy 21?
both copies of the gene are needed for the mutation meaning both parents must have the mutation; can skip generations
What is autosomal recessive?
This is an autosomal recessive disorder of carbohydrate metabolism
what is galactosemia
This term means extra or missing chromosomes
this is an agent that can cause structural or functional birth defects in a developing fetu or embryo.
What is a teratogen?
I am the leading cause of intellectual disability in the newborn and caused by exposure to a certain teratogen
What is FETAL ALCOHOL SYNDROME/SPECTRUM?
children of 2 CARRIER parents with an autosomal gene defect has a 25% chance of being affected and 50% chance of being a carrier
What is autosomal recessive
This could present as an elevated TSH on the newborn screen
What is hypothyroidism?
Some of the cells are normal and some are not; usually a les presentation of a genetic defect
what is mosaicism?
Gene expression in the fetus/infant is hidden unless both parents contribute a matching gene
What is a recessive gene?
I have microcephaly, omphalocele, neural tube defects, scalp defects, cleft lip/palate, will usually die in the neonatal period
What is PATAU SYNDROME/TRISOMY 13
Commonly presents with cataracts, brain damage, jaundice, enlarged liver, kidney damage and is an autosomal recessive disorder
What is galactosemia?
This is an autosomal recessive genetic disorder that causes thick, sticky mucus to build up in the lungs, pancreas, and other organs, leading to breathing and digestive problems.
What is cystic fibrosis?
This term is used when there is failure of the chromosomes to separate competely
what is nondisjunction?
This is the name of a complete set of chromosomes.
What is a genome?
This genetic defect as chromosome set: 45XO, only affects females, most embryos terminate spontaneously, but once born have a good outcome with treatment
What is Turner's syndrome?
what type of autosomal abnormality is represented by: Osteogenesis imperfecta, marfans, treacher collins, apert, crouzon.
What is autosomal dominant
This conditions presents in the neonatal period with a high-pitched, cat-like cry or weak cry, low birth weight,a small head.
What is cri-du-chat
This term is used to specify loss of chromosome material
What is deletion?
This classification of birth defects presents with hearing and visual problems.
What is a sensory disorder/birth defect?
I might present as a low birth weight baby with severe hypotonia, but tend to be obese as I grow up and will have developmental delays
What is PRADER WILLI?
This genetic defect is autosomal recessive, requires a low protein diet and if left untreated can cause progressive brain damage
what is PKU (phenylketonuria)
These are examples of specific type of metabolic disorder: homocystinuria, alkaptouria, cystinuria, Hartnup disease
what are amino acid disorders?
Two chromosomes are inherited from one parent and no corresponding chromosome from the other parent.
what is uniparental disomy?