Genetic Syndromes and Their Inheritance Patterns
Exam Questions and Answers 100% Pass
Transient Neonatal Diabetes Mellitus - ANSWER ✔✔-(1)UPD isodisomy of chr 6 (2) pat 6q24 duplication
(3) 6q24 methylation defect
Velocardiofacial (Di-George) - ANSWER ✔✔-AD
Alagille Syndrome - ANSWER ✔✔-AD
Brugada Syndrome - ANSWER ✔✔-AD
Hereditary Hemorrhagic Telangiectasia (HHT) - ANSWER ✔✔-AD
Holt-Oram syndrome - ANSWER ✔✔-AD
Leopard Syndrome - ANSWER ✔✔-AD
Noonan Syndrome - ANSWER ✔✔-AD
Williams Syndrome - ANSWER ✔✔-AD
Hereditary Breast and Ovarian Cancer Syndrome - ANSWER ✔✔-AD
Familial Adenomatous Polyposis - ANSWER ✔✔-AD
Hereditary Nonpolyposis Colon Cancer - ANSWER ✔✔-AD
Li-Fraumeni Syndrome - ANSWER ✔✔-AD
MEN type 1 - ANSWER ✔✔-AD
MEN type 2 - ANSWER ✔✔-AD
Created by Grace Amelia © 2025, All Rights Reserved.
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Neurofibromatosis II - ANSWER ✔✔-AD
Cowden syndrome (Hamartoma tumor syndrome) - ANSWER ✔✔-AD
Tuberous Sclerosis - ANSWER ✔✔-AD
Von-Hippel Lindau Syndrome - ANSWER ✔✔-AD
Xeroderma Pigmentosum - ANSWER ✔✔-AD
Branchio-oto-renal syndrome - ANSWER ✔✔-AD
CHARGE Syndrome - ANSWER ✔✔-AD
Cri-du-Chat - ANSWER ✔✔-AD
Greig Cephalopolysyndactyly (GCPS) - ANSWER ✔✔-AD
Rubenstein-Taybi Syndrome - ANSWER ✔✔-AD
Hidrotic Ectodermal Dysplasia - ANSWER ✔✔-AD
Hereditary Neuropthay with Liability to pressure palsies - ANSWER ✔✔-AD
Myotonic Dystrophy 1 (DM1) - ANSWER ✔✔-AD
Sotos Syndrome - ANSWER ✔✔-AD
Early Onset Familial Alzheimer Disease (EOFAD) - ANSWER ✔✔-AD
CADASIL - ANSWER ✔✔-AD
Neurofibromatosis I - ANSWER ✔✔-AD
Blepharophimosis, Ptosis and Epicanthis inversus (BPES) - ANSWER ✔✔-AD
Waardenburg syndrome - ANSWER ✔✔-AD
Created by Grace Amelia © 2025, All Rights Reserved.