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Genetic Syndromes and Their Inheritance Patterns Exam Questions and Answers 100% Pass

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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 2 | P a g e Created by Grace Amelia © 2025, All Rights Reserved. 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

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December 19, 2024
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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.

, 2|Page


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.

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