ABGC Board Study Inheritance Patterns
with Complete Solutions
22q11.2 deletion syndrome - ANSWER-microdeletion
5 alpha reductase deficiency - ANSWER-autosomal recessive
achondrogenesis COL2A1 - ANSWER-autosomal dominant
achondrogenesis TRIP11, SLC26A2 - ANSWER-autosomal recessive
achondroplasia - ANSWER-autosomal dominant
Adelaide (Muenke) - ANSWER-autosomal dominant
Agammaglobulinemia (Bruton) - ANSWER-X-linked
Alagille - ANSWER-autosomal dominant
Alpha anti-trypsin deficiency - ANSWER-autosomal codominant
Alport 15% COL4A3/4 - ANSWER-autosomal recessive
Alport 80% COL4A5 - ANSWER-X-linked
Alstrom - ANSWER-autosomal recessive
amyotrophic lateral sclerosis (ALS) - ANSWER-autosomal dominant
Angelman - ANSWER-imprinting
Aniridia - ANSWER-autosomal dominant
Antley Bixler - ANSWER-autosomal recessive
Apert - ANSWER-autosomal dominant
Ataxia telangiectasia - ANSWER-autosomal recessive
BAP1 syndrome - ANSWER-autosomal dominant
Bardet Biedl - ANSWER-autosomal recessive
Becker muscular dystrophy - ANSWER-X-linked
, Birt Hogg Dube - ANSWER-autosomal dominant
Branchio-oto-renal syndrome - ANSWER-autosomal dominant
Cardiofaciocutaneous syndrome - ANSWER-autosomal dominant
Carney complex - ANSWER-autosomal dominant
Charcot Marie Tooth GJB1 - ANSWER-X-linked
Charcot Marie Tooth MFN2 - ANSWER-autosomal dominant
Charcot Marie Tooth PMP22 - ANSWER-microduplication
CHARGE - ANSWER-autosomal dominant
Chediak-Higashi syndrome - ANSWER-autosomal recessive
Citrullinemia - ANSWER-autosomal recessive
Classical Ehlers-Danlos syndrome - ANSWER-autosomal dominant
congenital adrenal hyperplasia - ANSWER-autosomal recessive
Congenital contractural arachnodactyly (Beals syndrome) - ANSWER-autosomal
dominant
connexion-26-related hearing loss - ANSWER-autosomal recessive
Cornelia de Lange - ANSWER-AD or X-linked
Costello - ANSWER-autosomal dominant
Cowden syndrome - ANSWER-autosomal dominant
Crouzon - ANSWER-autosomal dominant
Cystic fibrosis - ANSWER-autosomal recessive
Cystinosis - ANSWER-autosomal recessive
Denys-Drash syndrome - ANSWER-autosomal dominant
DICER1 syndrome - ANSWER-autosomal dominant
with Complete Solutions
22q11.2 deletion syndrome - ANSWER-microdeletion
5 alpha reductase deficiency - ANSWER-autosomal recessive
achondrogenesis COL2A1 - ANSWER-autosomal dominant
achondrogenesis TRIP11, SLC26A2 - ANSWER-autosomal recessive
achondroplasia - ANSWER-autosomal dominant
Adelaide (Muenke) - ANSWER-autosomal dominant
Agammaglobulinemia (Bruton) - ANSWER-X-linked
Alagille - ANSWER-autosomal dominant
Alpha anti-trypsin deficiency - ANSWER-autosomal codominant
Alport 15% COL4A3/4 - ANSWER-autosomal recessive
Alport 80% COL4A5 - ANSWER-X-linked
Alstrom - ANSWER-autosomal recessive
amyotrophic lateral sclerosis (ALS) - ANSWER-autosomal dominant
Angelman - ANSWER-imprinting
Aniridia - ANSWER-autosomal dominant
Antley Bixler - ANSWER-autosomal recessive
Apert - ANSWER-autosomal dominant
Ataxia telangiectasia - ANSWER-autosomal recessive
BAP1 syndrome - ANSWER-autosomal dominant
Bardet Biedl - ANSWER-autosomal recessive
Becker muscular dystrophy - ANSWER-X-linked
, Birt Hogg Dube - ANSWER-autosomal dominant
Branchio-oto-renal syndrome - ANSWER-autosomal dominant
Cardiofaciocutaneous syndrome - ANSWER-autosomal dominant
Carney complex - ANSWER-autosomal dominant
Charcot Marie Tooth GJB1 - ANSWER-X-linked
Charcot Marie Tooth MFN2 - ANSWER-autosomal dominant
Charcot Marie Tooth PMP22 - ANSWER-microduplication
CHARGE - ANSWER-autosomal dominant
Chediak-Higashi syndrome - ANSWER-autosomal recessive
Citrullinemia - ANSWER-autosomal recessive
Classical Ehlers-Danlos syndrome - ANSWER-autosomal dominant
congenital adrenal hyperplasia - ANSWER-autosomal recessive
Congenital contractural arachnodactyly (Beals syndrome) - ANSWER-autosomal
dominant
connexion-26-related hearing loss - ANSWER-autosomal recessive
Cornelia de Lange - ANSWER-AD or X-linked
Costello - ANSWER-autosomal dominant
Cowden syndrome - ANSWER-autosomal dominant
Crouzon - ANSWER-autosomal dominant
Cystic fibrosis - ANSWER-autosomal recessive
Cystinosis - ANSWER-autosomal recessive
Denys-Drash syndrome - ANSWER-autosomal dominant
DICER1 syndrome - ANSWER-autosomal dominant
