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ABGC Board Study Inheritance Patterns, Exams of Medicine

West Virginia University (WVU)Medicine

ABGC Board Study Inheritance Patterns

Typology: Exams

2024/2025

Available from 01/20/2025

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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
pf3
pf4
pf5
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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

hereditary angioedema - ANSWER-autosomal dominant Hereditary breast and ovarian cancer syndrome - ANSWER-autosomal dominant Hereditary diffuse gastric cancer - ANSWER-autosomal dominant hereditary hemochromatosis - ANSWER-autosomal recessive hereditary hemorrhagic telangiectasia - ANSWER-autosomal dominant Hereditary Paraganglioma-Pheochromocytoma Syndrome - ANSWER-autosomal dominant Hermansky-Pudlak syndrome - ANSWER-autosomal recessive Hidrotic ectodermal dysplasia (Clouston) - ANSWER-autosomal dominant HLRCC - ANSWER-autosomal dominant Holt Oram - ANSWER-autosomal dominant homocystinuria - ANSWER-autosomal recessive Hydrocephalus L1CAM - ANSWER-X-linked hypochondrogenesis - ANSWER-autosomal dominant hypochrondroplasia - ANSWER-autosomal dominant hypohidrotic ectodermal dysplasia EDA - ANSWER-X-linked incontinenti pigmenti - ANSWER-X-linked Itchthyosis vulgaris - ANSWER-autosomal dominant Jackson Weiss - ANSWER-autosomal dominant Jervell and Lange-Nielsen syndrome - ANSWER-autosomal recessive Joubert - ANSWER-autosomal recessive Junctional epidermolysis bullosa - ANSWER-autosomal recessive Juvenile polyposis syndrome - ANSWER-autosomal dominant

Kabuki KMT2D - ANSWER-autosomal dominant Kallmann syndrome ANOS1 - ANSWER-X-linked Kniest dysplasia - ANSWER-autosomal dominant Krabbe - ANSWER-autosomal recessive Lamellar ichthyosis - ANSWER-autosomal recessive Larsen syndrome - ANSWER-autosomal recessive LCHAD - ANSWER-autosomal recessive Leber congenital amaurosis - ANSWER-autosomal recessive Legius syndrome - ANSWER-autosomal dominant Leri Weill - ANSWER-pseudoautosomal dominant Lever hereditary optic neuropathy - ANSWER-mitochondrial Li Fraumeni - ANSWER-autosomal dominant Loeys Dietz - ANSWER-autosomal dominant Lowe syndrome - ANSWER-X-linked Lynch syndrome - ANSWER-autosomal dominant Marfan - ANSWER-autosomal dominant MCAD - ANSWER-autosomal recessive Meckel Gruber - ANSWER-autosomal recessive MEN1 - ANSWER-autosomal dominant MEN2 - ANSWER-autosomal dominant MPS1 Hurler - ANSWER-autosomal recessive MPSII Hunter - ANSWER-X-linked MSUD - ANSWER-autosomal recessive

Pompe - ANSWER-autosomal recessive Retinoblastoma - ANSWER-autosomal dominant Rett syndrome - ANSWER-X-linked rhizomelic chondrodysplasia puntata - ANSWER-autosomal recessive Saethre Chotzen - ANSWER-autosomal dominant schwannomatosis - ANSWER-autosomal dominant Senor Loken - ANSWER-autosomal recessive Shprintzen Goldberg - ANSWER-autosomal dominant Shwachman Diamond syndrome - ANSWER-autosomal recessive sickle cell anemia - ANSWER-autosomal recessive Simpson Golabi Behmel - ANSWER-X-linked Smith Lemli Opitz - ANSWER-autosomal recessive Sotos - ANSWER-autosomal dominant or microdeletion steroid sulfatase deficiency - ANSWER-X-linked Stickler - ANSWER-autosomal dominant Tay-Sachs disease - ANSWER-autosomal recessive Townes Brocks - ANSWER-autosomal dominant Treacher Collins - ANSWER-autosomal dominant Trichothiodystrophy - ANSWER-autosomal recessive Tuberous sclerosis - ANSWER-autosomal dominant Turner syndrome - ANSWER-aneuploidy Tyrosinemia - ANSWER-autosomal recessive Usher - ANSWER-autosomal recessive

Van der Woude - ANSWER-autosomal dominant Vascular Ehlers-Danlos syndrome - ANSWER-autosomal dominant von Hippel Lindau - ANSWER-autosomal dominant von Willebrand's - ANSWER-autosomal dominant Waardenburg - ANSWER-autosomal dominant WAGR - ANSWER-microdeletion Weill-Marchesani syndrome ADAMTS10 - ANSWER-autosomal recessive Weill-Marchesani syndrome FBN1 - ANSWER-autosomal dominant Williams - ANSWER-microdeletion Wilson disease - ANSWER-autosomal recessive Wiskott Aldrich - ANSWER-X-linked Xeroderma pigmentosum - ANSWER-autosomal recessive Zellweger syndrome - ANSWER-autosomal recessive