L6-Atypical Inheritance Flashcards
What is differential modification and expression of alleles of a gene depending on the sex of the parent of origin?
Imprinting!
What disorder is associated with hypotonia (rag doll) and decreased fetal weight?
Prader Willi Syndrome
What is the most relevant dental component to Prader WIlli Syndrome?
These patients will have thick, sticky saliva
Which syndrome is associated with excessive weight gain and the inability to be full?
Prader Willi Syndrome
What was the reason behind a fair-skined Prader Willi Patient?
There was a deletion of a gene somewhere down the line
What technique do they use to view the gene deletions associated with Prader Willi and Angelman’s Syndromes?
FISH
In PWS cases due to deletions, deletion always occurs on ________ homologue.
PATERNAL
Deletion of the same 15q11q13 region on maternal homologue results in a different clinical disorder, _______.
Angelman syndrome
When looking at a PWS FISH and there are no deletions, what must be the reason for the Prader Willi?
Uniparental Disomy of Chromosome 15 from mom
HeteroDisomy occurs from non disjunction during ____.
Meiosis I
IsoDisomy occurs from non disjunction during _____.
Meiosis II
In a Monosomy rescue, the fetus is initially monosomic; monosomic chromosome is duplicated: so now you have complete ________.
Isodisomy
Out of the 4 mechanisms that cause Prader Willi Syndrome, what is the % caused by deletions?…Uniparental Disomy?
70%-deletions…..25% uniparental disomy
Out of the 4 mechanisms that cause Angelman’s Syndrome, what is the % caused by deletions?…Uniparental Disomy?
68% deletions….7% uniparental disomy
What was the mechanism when the man’s son is diagnosed with PWS and his sister’s daughter was diagnosed with AS? How are they related?
Translocation!
