Genetics Exam Ii Common Multiple Anomaly Syndromes

Front 1

Neurofibromatosis

Back 1

Autosomal dominant inheritance

Front 2

NF1

Back 2

-Complete penetrance, but age of onset variable, and variable expressivity

-Diagnosis: clinical exam NOT chrom. analysis

Front 3

NF2

Back 3

-Due to mutation in merlin gene
-diagnosis: by clinical exam

Front 4

Criteria for diagnosising NF

Back 4

1. Six or more cafe au lait macules
2. Skinfold freckling
3. Two or more neurofibromas of any type
4. Optic glioma
5. Two or more Lisch nodules (abnormal spots on iris)
6. Osseous lesion or thinning of long bone
7. First degree relative with NF2

Front 5

Marfan Syndrome

Back 5

-Autosomal dominant
-Mutation in fibrillin
-Primarily missense, but nonsense & frameshift mutation also
-dominant negative (results in severe phenotype)

Front 6

Gross chromosomal changes, alteration of the number of chromosomes and in banding patterns of each chromosome.

Back 6

Can be detected by karyotype

Front 7

Subtle changes in chromosome, small deletions, small insertions, nucleotide changes require what tool?

Back 7

FISH probes

Front 8

Examples of common micro-deletion syndromes

Back 8

1. Wolf-Hirschhorn syndrome
2. Cri-du-chat syndrome
3. VeloCardial Facial syndrome
4. Williams syndrome

Front 9

Wolf-Hirschhorn syndrome

Back 9

Loss of terminal material from 4p

Front 10

Cri-du-chat syndrome

Back 10

Deletion of 5p region

Front 11

VeloCardial Facial syndrome or DiGeorge Syndrome

Back 11

Chrom. microdeletion

Front 12

Williams syndrome

Back 12

Chrom. microdeletion