Hot Topic - Breakage syndromes Flashcards Preview

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Flashcards in Hot Topic - Breakage syndromes Deck (8)
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1
Q

Describe the testing procedure for Nijmegan breakage syndrome

A

Irradiate cultures
Score breakage compared to a normal control in 80-100 metaphases.

If abnormal, send for NBN mutation analysis

2
Q

Describe the testing procedure for Ataxia Telangiectiasia

A

Irradiate cultures
Score breakage/abberations in 50 cells
Check for rearrangements involving the TCR (between chromosomes 7 and 14)

If abnormal, send for ATM mutation analysis

3
Q

Describe the testing procedure for Fanconi Anaemia

A

Treat with MMC or DEB (clastogens)
Score the number of SCE compared to normal control in 80-100 cells

If abnormal send for Fanconi panel testing. (FANCA, FANCC and FANCG account for 90% of mutations)

4
Q

Describe the testing procedure for Bloom syndrome

A

Treat with BrDU
Score 20 cells for increased numbers of SCE (often 10x number in normal cells)
May also see quadriradials

If abnormal send for BLM testing

5
Q

Describe the clinical features associated with Fanconi Anaemia

A
Hypoplastic thumbs
Aplastic anaemia
Microcephaly
Pancytopaenia
cafe-au-lait patches
renal anomalies
Short
Increased risk of AML
6
Q

Describe the clinical features associated with Bloom syndrome

A
Butterfly rash
Short
Intellectual disability (in some)
long facies
micrognathia
At risk of multiple cancers
UV-sensitive
7
Q

Describe the clinical features associated with Ataxia Telangiectasia

A
Ataxia
Telangiectasia
Leukaemia
Lymphoma
Radiation sensitive
Breast cancer
8
Q

Describe the clinical features associated with Nijmegan breakage syndrome

A
Short stature
Microcephaly
ID
Distinctive facies
NHL