Autosomal Contiguos Gene Syndromes

Question 1

del(4p16.3)

Answer 1

Wolf-Hirschhorn Syndrome

Characterised by facial clefting, prominent ears, microcephaly, intellectual disabilities.

Question 2

del(5p15.2)

Answer 2

Cri Du Chat syndrome

Characterised by microcephaly, characteristic cry (cat like), seizures, and intellectual disabilities.

Question 3

del(7p11.2)

Answer 3

Williams syndrome

Characterized by congenital heart disease and short stature

Question 4

del(8p24.1)

Answer 4

Langer-Geidion syndrome

Characterized by tricho-rhino-pharangeal syndrome and multiple exostoses

Question 5

del(11p13)

Answer 5

WAGR Syndrome

Characterised by Wilms tumor, aniridia, genitourinary anomalies, and intellectual disabilities.

Question 6

dup(11p15.5) paternal

Answer 6

Beckwith-Wiedemann syndrome

Overgrowth, omphalocele, and predisposition to Wilms and other tumors.

Question 7

del(17p13.3)

Answer 7

Miller-Dieker syndrome

Lissencephaly (agyria) and profound intellectual disabilities.

Question 8

del(22q11.2)

Answer 8

DiGeorge Syndrome

Absent or hypoplastic thymus and parathyroids, congenital heart disease

Velo-Cardio-Facial Syndrome

Cleft palate, lateral nasal buildup, and cardiac septal defects