Lecture 22 Flashcards Preview

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Flashcards in Lecture 22 Deck (11):
1

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.

2

What is Chromosomal Paint used for?

It is used to identify complex chromosomal rearrangements.

3

______ is now being used to detect subtle chromosome deletions and duplications.

CGH is now being used to detect subtle chromosome deletions and duplications.

4

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

5

What are the F and B characteristics of Down Syndrome patients?

F --> epicanthal folds and upslanting palpebrae
B --> septal heart defects

6

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.)

7

What are the the B and G characteristics of Trisomy 13?

B --> holoprosencephaly + oro-facial cleft + polydactyly
G --> IUGR

8

Wolf-Hirschhorn is a condition that is caused by a 4p _____.

Wolf-Hirschhorn is a condition that is caused by a 4p TERMINAL DELETION.

9

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.

10

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

11

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.