oral path 3xam 3/3

a trait or characteristic that is manifested when it is carried by only one of a pair of homologous chromosomes

the appearance of the face

an individual with two different genes

an individual having identical genes

permanent change in the arrangement of genetic material

entire physical, biochemical, and physiologic make-up of a person

set of signs or symptoms, or both, occurring together

a pair of chromosomes with an identical extra chromosome

science that studies inheritance and expression of inherited traits

hereditary units that are transmitted from one generation to another

single strand (DNA – double)
sugar is ribose
base uracil (U) replaces thymine (T)

blueprint of the genetic DNS for coding of proteins

transfers amino acids from the cytoplasm to the messenger RNA, positioning amino acids in the proper sequence to form polypeptides and hence proteins

combines with several polypeptides to form ribosomes

found within the nucleus and is the precursor of messenger RNA

known as “Down’s Sydrome”

Most frequent
Facies characterized by slanted eyes (facies – appearance of the face)
Usually shorter, heart abnormalities present in more than 30%
Fissured tongue
Premature loss of teeth are common – due to increase in gingival and periodontal disease – about 90%

multiple abnormalities in various organs
70% of infants die within 1st 7 months of life

micropthalmia

anopthalmia

* polydactyly of hands and feet

bottom feet

Female phenotype (make-up and looks)
short stature
webbing of the neck
edema of the hands and feet
low hairline
chest is broad with wide-spaced nipples
aorta is frequently abnormal
sparse body hair
ovaries are usually not developed

Genetically XXY chromosomal pattern
Male phenotype – not detected until after puberty
Taller than normal, wide hips, and female pubic hair distribution
50% gynecomastia – development of female breasts

tramsmitted vertically from one generation to the next

a decrease in the number of circulating neutrophils