Congenital Malformations | The University of Chicago Genetic Services

IMAGe Syndrome/Beckwith-Wiedemann Syndrome Testing (CDKN1C)

Joubert/Meckel Gruber Syndrome Panel

Kabuki Syndrome Panel

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Macrocephaly Panel

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

Meckel-Gruber Syndrome Panel

Microcephaly Panel

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.

Nephronophthisis Panel