Syndromes

Question 1

macroglossia, organomegaly,Wilms tumor

hemihyperplasia,umbilical hernias

Answer 1

Beckwith-Wiedemann syndrome

Question 2

genomic imprinting of the parental 11p15.5

Answer 2

Beckwith-Wiedemann syndrome

Question 3

defects in imprinting include

Answer 3

• Beckwith-Wiedemann syndrome
• Prader-Willi syndrome
• Angelman syndrome,
• Precocious puberty

Question 4

Genes implicated in Beckwith-Wiedemann syndrome

Answer 4

1. insulin-like growth factor 2 (IGF2)

2. H19

Question 5

Wilms tumor is associated with the following syndromes

Answer 5

1. WAGR complex
2. Denys-Drash syndrome—
3. Beckwith-Wiedemann syndrome

Question 6

WAGR complex

Answer 6

Wilms tumor, Aniridia (absence of the iris), Genitourinary malformations, mental Retardation/intellectual disability (WT1 deletion)

Question 7

Denys-Drash syndrome

Answer 7

Wilms tumor, Diffuse mesangial sclerosis (early-onset nephrotic syndrome), Dysgenesis of gonads (male pseudohermaphroditism), WT1 mutation

Question 8

Beckwith-Wiedemann syndrome

Answer 8

Wilms tumor, macroglossia, organomegaly, hemihyperplasia (WT2 mutation), omphalocele

Question 9

Peliosis hepatitis is associated with

Answer 9

tuberculosis, carcinomatosis, Bartonella henselae infection, as well as anabolic steroid use