Important Syndromes Flashcards by Pavan Rajesh

Q

Alagille syndrome

A

Chr 20p12 deletion

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Angelman syndrome

A

Imprinting of Chr 15q11

Uniparental disomy

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Beckwith widemann syndrome

A

Imprinting of Chr 11p15

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Chediak Higashi syndrome

A

LYST gene on Chr 1q2

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Cri du chat syndrome

A

5p deletion

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Down symdrome

A

Trisomy 21

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Edward syndrome

A

Trisomy 18

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Ellis van Crewald syndrome

A

EVC, EVC 2 gene

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Fragile X syndrome

A

Triple nucleotide repeats

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Hyper IgE syndrome

A

stat 3

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Kenny Caffey syndrome

A

TBCE gene (1q 43-44)

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Klinefelter syndrome

A

47XXY

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Lawrence Moon Bardet Biedel Syndrome

A

BBS 1 - 12
MKS 1
MKS 3
CEP 290

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Marfan syndrome

A

FBN 1 gene Chr 15q21.1

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Mc cune albright syndrome

A

Mis sense mutation in gene for α subunit of GS

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Noonan syndrome

Study These Flashcards

A

PTPN11 gene

Q

Patau syndrome

Study These Flashcards

A

Trisomy 13

Q

Pendred syndrome

Study These Flashcards

A

gene for Pendrin Chr 7

Q

Pierre Robin syndrome

Study These Flashcards

A

DNA near SOX 9 gene

Q

Rubinstein Taybi syndrome

Study These Flashcards

A

CBP mutations

Q

Russell Silver syndrome

Study These Flashcards

A

Chr 7q32 deletion

Q

Soto’s syndrome

Study These Flashcards

A

Chr 5q35 deletion

Q

Treacher Collin syndrome

Study These Flashcards

A

TCOF 1 gene mutation

Q

Turner syndrome

Study These Flashcards

A

45XO

Digeorge syndrome or Velo Cardio Facial syn

Chr 22q11 deletion

Waardenburg syndrome

PAX3 gene mutation

WAGR syndrome

Chr 11p13 deletion

William syndrome

Chr 7q11 deletion

Wiskott Aldrich syndrome

WASP gene Chr Xp11