Lecture 22 Flashcards
FISH is a cytogenetic technique used to identify ______ or microscopic ______/______ in metaphase or interphase cells.
FISH is a cytogenetic technique used to identify TRISOMIES or microscopic DELETIONS/DUPLICATIONS in metaphase or interphase cells.
What is Chromosomal Paint used for?
It is used to identify complex chromosomal rearrangements.
______ is now being used to detect subtle chromosome deletions and duplications.
CGH is now being used to detect subtle chromosome deletions and duplications.
What are the 4 cornerstones of cytogenetic variation (FBGD)?
- Facial features
- Birth defects and physical variation
- Growth retardation including head
- Developmental problems
What are the F and B characteristics of Down Syndrome patients?
F –> epicanthal folds and upslanting palpebrae
B –> septal heart defects
What are the F, B, and G characteristics of trisomy 18 patients?
F –> Bird-like facies
B –> Rocker bottom feet
G –> IUGR (intrauterine growth retardation.)
What are the the B and G characteristics of Trisomy 13?
B –> holoprosencephaly + oro-facial cleft + polydactyly
G –> IUGR
Wolf-Hirschhorn is a condition that is caused by a 4p _____.
Wolf-Hirschhorn is a condition that is caused by a 4p TERMINAL DELETION.
Chromosome 22q11.2 deletion (aka ______ syndrome) has which B features?
Chromosome 22q11.2 deletion (aka Di George Syndrome) has conotruncal heart defects, hypocalcemia, and immunodeficiency B features.
Turner Syndrome features (mostly _____ karyotype) include:
F –> ______ neck
G –> ______ in childhood
D —> ______ due to ovarian failure
Mostly 45X karyotype
F –> webbed neck
G –> Short Stature in childhood
D –> Infertility due to ovarian failure
What kind of translocation could cause a female to be affected by an X-linked recessive trait?
An X:autosomal translocation with inactivation of the Normal X could give rise to the recessive phenotype.
