Hereditary nonpolyposis colon cancer

Familial adenomatous polyposis

Neurofibromatosis

Hereditary breast cancer

DNA mismatch repair

Membrane receptors

Transcription factors

Cell cycle control

Abl oncogene

Myc oncogene

NF1 gene

EGF receptor gene

Down syndrome

Turner syndrome

Deletion syndrome

Williams syndrome

The likelihood that a mutation stated to be present is in fact present.

The likelihood that identification of a mutation correctly predicts presence or absence of disease.

The likelihood that a mutation test will successfully identify a pathogenic mutation.

The likelihood that an identified mutation is pathogenic vs. a benign variant.

This is a normal progeny likely of no significance.

This is an abnormal chromosomal composition that would cause congenital anomalies if transmitted to a child.

This rearrangement may lead to chromosomal imbalance in the offsprings and could explain multiple miscarriages in the female.

This rearrangement may cause to dicentric or acentric chromosomes in the offsprings, which would probably not be appropriate with survival.

Down syndrome is generally random, so there is no increased risk to this couple.

If results of the woman's sister's karyotype cannot be found, the woman herself should have chromosomal analysis.

The pregnancy will be screened in the second trimester using alphafetoprotein, bhCG, and unconjugated estriol, which should be sufficient to detect Down syndrome if it has occurred.

Prenatal diagnosis should be done by chorionic villus sampling or amniocentesis.

There is a 50% risk that he will have a son with an extra X chromosome.

He will be infertile so there is no risk of transmission.

There is a slight possibility of fertility, and therefore he could have a chromosomally abnormal offspring.

He will be unlikely to survive to reproductive age.

Dihydropteridine reductase deficiency

Canavan disease

Galactosemia

Gaucher disease

A normal karyotype rules out all detectable chromosomal abnormalities.

The girl should have FISH analysis for all known microdeletions.

The chromosome study should be repeated in another laboratory.

Analysis for subtelomere deletion may detect an abnormality missed by convential chromosomal analysis.

Mannose-6-phosphate

Phosphorylation of tyrosine

Cleavage of the N-terminus of the protein

Cleavage of the C-terminus of the protein

failure of formation of testes

presence of a uterus

breast development at puberty

stoppage of virilization of phallus

Missense mutation

Nonsense mutation

Deletion of an exon

Inversion of part of the gene

Mutation of SOX9

Presence of excessive androgen during in utero development

Translocation of SRY from the Y to an autosome

Chimerism with a 46, XY cell line

The developing embryo is most likely a carrier.

The developing embryo could be affected if recombination occurred in the father.

The developing embryo could be homozygous unaffected if recombination occurred in the mother.

All of the above

replacement of missing enzyme activity by enzyme infusion

providing alternative pathways for excretion of ammonia

coenzyme replacement

kidney transplant

Test both parents to see if the mutation is found only in the child.

Determine whether the mutation affects an amino acid that is conserved in evolution.

Examine the structure of the protein to see if the mutation has a major effect on protein function.

Review the literature to see if the mutation has been reported to be pathogenic.

Presence of DNA-binding domain

Transport to lysosome

Binding of extracellular ligands in the cell membrane

Secretion from the cell

homozygous mutation of a tumor suppressor gene

Haploinsufficiency

Gain of function mutation

Dominant negative effect

enzyme assay

DNA-based testing

analysis of a blood smear

ophthalmological testing looking for a cherry-red spot

Transfusion

Chelation

Phlebotomy

Iron

high mutation rate

heterozygote advantage

genetic drift

high frequency of consanguinity

iron overload

chronic anemia

toxicity due to chelation therapy

hepatitis infection due to transfusion

non-penetrance

allelic heterogeneity

locus heterogeneity

variable expression

Laboratory errors in mutation analysis

Nonpenetrance of many CFTR mutations

Germline mosaicism

Incomplete ascertainment of mutations