Autosomal Contiguous Gene Syndromes

Question 1

Cri-du-Chat

Answer 1

Microcephaly
Characteristic cry
Seizures, intellectual disability

Del(5p15.2)

Question 2

Prader-Willi Syndrome

Answer 2

Hypotonia, hypopigmentation, hypogenitalism, obesity, excessive eating, short stature, small hands and feet, hypogonadism, intellectual disabilities

Paternal Del(15q11-q13) accounts for 70% of cases
Uniparental disomy and imprinting error account for remaining cases

Question 3

Angelman Syndrome

Answer 3

Seizures, intellectual disability, unusual facial appearance, short stature, severe intellectual disabilities, prominent chin

Maternal Del(15q11-q13)
Increased incidence in infertile couples using advanced reproductive therapy to conceive (may be related to imprinting erasure and resetting malfunctions)

Question 4

WAGR Syndrome

Answer 4

Wilms tumor
Aniridia
Genitourinary anomalies
Intellectual disability

Del(11p13)
Interstitial deletion of 11p13 (large enough to see at chromosome level)

Question 5

DiGeorge Syndrome

Answer 5

Absent or hypoplastic thymus and parathyroid’s, congenital heart disease

Del(22q11.2)