Flashcards in Lecture 22 Deck (11):
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)?
1. Facial features
2. Birth defects and physical variation
3. Growth retardation including head
4. 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