Melas syndrome - Study guides, Class notes & Summaries

Ward Pediatrics Test 2 Exam Questions With 100% Correct Answers. Which inheritance pattern results from one parent having a mutation, and causes a mutation in every generation? - answerAutosomal dominant Which inheritance pattern results from both parents being carriers? - answerAutosomal recessive Which inheritance pattern results from a mutation on the X chromosome, and generally affects more females than males? - answerX-Linked dominant. Which inheritance pattern results from a mutati...

Adult renal disease and MC The situation in adults with MC seems to be different from children. Although a range of renal pathologies has been reported, including tubulo-interstitial disease and multi-cystic disease, the most common finding has been focal segmental glomerulo-sclerosis (FSGS).25–27 For reasons that are not yet clear, there appears to be a female preponderance in the literature, which has not been observed in children, and there is wide variation in age at presentation....

Cerebellar ataxia, telangiectasias, and increased risk of sinopulmonary infections = triad of _________. -This is due to a defect in the ________gene responsible for ____________. -immune deficiency manifests as _______ - ***ataxia telangiectasia ATM gene responsible for DNA break repair IgA deficiency Pt presents with unsteady gait, spider like capillary angiomas on the skin, and recent pulmonary infections...Dx= - ***Ataxia Telangiectasia Pt presents with Thrombocytopenia, Eczema, an...

Osteogenesis imperfecta correct answers Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neonatal lethal, abnormal collagen Type III: AD, progressive deforming, fractures at birth, small, blue sclera Type IV: AD, normal sclera, mild/mod bone deformity, short stature, fractures Alzheimer...

co-dominance examples - Answer-blood groups a-1 antitrypsin deficiency variable expressivity example - Answer-NF1 incomplete penetrance example - Answer-BRCA1 mutations don't always result in breast/ovarian cancer pleiotropy: definition and example - Answer-one gene contributes to multiple effects example: PKU mosaicism - Answer-presence of genetically distinct cell lines in the same individual McCune-Albright Syndrome - Answer-due to mutation affecting G-protein signaling uni...

NSC 3361 Unit 1 Case Studies With Solution...

Genetic Counseling Boards Review Questions and Answers (summer 2023/24). - A young patient (5yrs) presents for the first time to a new dentist with crowded teeth, making them very hard to clean. In further exploration of the issue, she learns that the child had delayed eruption of his teeth. The patient's mother also relays that her pediatrician has several times noted how prominent the veins of his scalp are and his short stature. However, she thinks that this is just part of the spectrum ...

Generic Boards Review summary study guide rated 5 stars (rcommended to getting straight As) Osteogenesis imperfecta - Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neonatal lethal, abnormal collagen Type III: AD, progressive deforming, fractures at birth, small, blue sclera Type ...

Osteogenesis imperfecta correct answers Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neonatal lethal, abnormal collagen Type III: AD, progressive deforming, fractures at birth, small, blue sclera Type IV: AD, normal sclera, mild/mod bone deformity, short stature, fractures Alzheimer...

BIOCHEM NBME EXAM GRADED A+ Hypercholesterolemia Autosomal dominant - mutation of the LDL receptor Marfan Syndrome autosomal dominant; mutation in the fibrillin that holds in the elastin; tall, weak heart Huntington's disease Autosomal dominant; CAG repeats in the huntingtin gene; huntingtin is involved in kinesin, dynein trafficing; characterized by uncontrollable body movements and degeneration of the nervous system; usually fatal 10 to 20 years after the onset of symptoms. Achondrop...