Lecture 22 Flashcards Preview

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Flashcards in Lecture 22 Deck (11)
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1
Q

FISH is a cytogenetic technique used to identify ______ or microscopic ______/______ in metaphase or interphase cells.

A

FISH is a cytogenetic technique used to identify TRISOMIES or microscopic DELETIONS/DUPLICATIONS in metaphase or interphase cells.

2
Q

What is Chromosomal Paint used for?

A

It is used to identify complex chromosomal rearrangements.

3
Q

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

A

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

4
Q

What are the 4 cornerstones of cytogenetic variation (FBGD)?

A
  1. Facial features
  2. Birth defects and physical variation
  3. Growth retardation including head
  4. Developmental problems
5
Q

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

A

F –> epicanthal folds and upslanting palpebrae

B –> septal heart defects

6
Q

What are the F, B, and G characteristics of trisomy 18 patients?

A

F –> Bird-like facies
B –> Rocker bottom feet
G –> IUGR (intrauterine growth retardation.)

7
Q

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

A

B –> holoprosencephaly + oro-facial cleft + polydactyly

G –> IUGR

8
Q

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

A

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

9
Q

Chromosome 22q11.2 deletion (aka ______ syndrome) has which B features?

A

Chromosome 22q11.2 deletion (aka Di George Syndrome) has conotruncal heart defects, hypocalcemia, and immunodeficiency B features.

10
Q

Turner Syndrome features (mostly _____ karyotype) include:
F –> ______ neck
G –> ______ in childhood
D —> ______ due to ovarian failure

A

Mostly 45X karyotype
F –> webbed neck
G –> Short Stature in childhood
D –> Infertility due to ovarian failure

11
Q

What kind of translocation could cause a female to be affected by an X-linked recessive trait?

A

An X:autosomal translocation with inactivation of the Normal X could give rise to the recessive phenotype.