Condensed chromatin of the inactivated X chromosome found in the periphery of nucleus of cells in women

Degree clinical manifestation of trait or characteristic.

Having two sets of chromosomes, normal constitution of somatic cells

Pair of chromosomes with an identical extra chromosomes

Genetics, trait or characteristic manifested when carried by only one pair of homologous chromosomes

Trait or characteristic that shows clinically if there is a double gene dose (homozygous) in autosomic chromosomes or single gene dose in males if the trait is X-linked

Heterozygous individual who is clinically normal but transmits a recessive trait or characteristic. Also a person who is homozygous for an autosomal dominant condition with low penetrance.

This is a Gross Chromosomal Abnormality known as Down Syndrome-

Due to nondisjunction

More common in older pregnancies

This is a Gross Chromosomal Abnormality that causes multiple abnormalities in various organs, 70% die within 7 months, polydactyly of hands and feet, cleft lip and palate, clenched fists, anophthalmia, facies hemangioma.

This is a Gross Chromosomal Abnormality that is a female phenotype, that causes of webbing of neck, low hairline on nape of neck

This is a Gross Chromosomal Abnormality that is a male phenotype, that causes gynecomastia, maxilla slightly hypoplastic

This is a Gross Chromosomal Abnormality that is caused by deletions and causes a cat-cry at birth, mentally retarded, and has no oral manifestations.

This is a Gross Chromosomal Abnormality that is caused by deletions and causes cleft palate, lower IQ, and wide set eyes

Patterns of Inheritance:

Transmitted vertically from one generation to next, males and females equally affected.

Carrying a gene for condition, risk for offspring is 50% for each pregnancy.

Can carry gene with dominant effect without expression- lack of penetrance.

Patterns of Inheritance:

Trait must be homozygous for the gene

Clinically normal parents who carry gene

Parents can be carriers

Discovered when passed on to children

25% chance or 1:4 pregnancies

Heterozygous woman 50/50 chance of sons and daughters receiving affected “X” chromosome

Homozygous woman-All offspring will have condition since only one “X” is needed for expression

Affected male - Will pass to all his daughters (all will have the disease), none of his sons

Heterozygous woman-50/50 chance of daughters will receive the “X” , will only be silent carriers. 50/50 chance of sons will receive, will express disease

Affected male- Will pass to all his daughters, become carriers unless mom also passed affected gene. None to his sons

The Lyon hypothesis is demonstrated by:

Lyon hypothesis:

Males receiving affected X-linked will have __a__. Females will receive normal from dad and damaged from mom, may express __b__ depending which X chromosome is cancelled, but will be carriers.

This inherited disorder affects the maxilla and mandible. It can cause multiple osteoma, colon polyps, adenocarcinoma, radiographically will show odontomas and osteomas in jaw. It can obliterate sinuses and cause facial asymmetry.

This inherited disorder affects the mandible, teeth, ears causing a fish-like appearance with downwards lips. Radiographically appears obtuse, mandibular angle, small condyle. Facies has downward sloping of palpebral fissures.

This inherited disorder affects type 1 collagen, bone and teeth. It causes multiple bone fractures, bowed legs, and curved spine. It can be mistaken for infant child abuse.

This condition causes supernumerary teeth, absent clavicles, open fontanelles, affecting the teeth, clavicles, and skull.

Hint:

This condition causes gingival fibromatosis, dysplastic or missing nails, malformed nose and ears due to soft and pliable cartilage formation, short fingers and toes causing a frog-like appearance. Located on gingiva and multiple organs: hepatosplenomegaly.

This condition causes keratosis of gingiva, palms, and soles of feet. Microscopical significance hyperorthokeratosis of affected areas. It only affects the attached gingiva.

This condition causes mobile teeth, PPD, palmoplantar hyperkeratosis and affects the gingiva, PDL, and palms+soles, preventative tx is unsuccessful

This condition causes bilateral enlargement of the face, pseudo anodontia, delayed eruption, hypertelorism (increased distance between eyes), chipmunk like appearance. Radiographically shows multiple bilateral radiolucencies of the mandibular ramus and microscopically shows multinucleated giant cells in loose connective tissues.

Which cell division process deals with all cells in body except ova and spermatozoa?