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When a family has multiple individuals in a family have pancreatic cancer, is this more likely to be due to a mutation in BRCA1 or BRCA2? - BRCA2 What genes are associated with Noonan syndrome? - PTPN11, SOS1, KRAS What heart defects can be seen in Noonan syndrome? - Pulmonary valve stenosis and ...

Under what circumstances should an infant with clinical features of Down syndrome be karyotyped? A. Only if the parents desire more children B. Only if the mother is younger than 35 years old C. Only if not all of the features of Down syndrome are present D. Only if the mother has had 3 early mi...

1. Which of the following features identified by fetal ultrasound is MORE commonly associated with trisomy 18 than with trisomy 21? A. nuchal thickening B. duodenal atresia C. echogenic bowel D. choroid plexus cyst - D 2. A 20-year-old man and his family are seen for genetic counseling to disc...

Question: What are some conditions that can have associated behavioral features? - Answer: Neurodevelopental: Fragile X syndrome Neurodegenerative: Huntington's disease, Frontotemporal dementia Chromosomal abnormalities: 22q11.2 microdeletion, Prader willi syndrome, Smith-magenis syndrome Metab...

Questions: 1) There is a defect in metabolizing _______ in fatty acid oxidation disorders. 2) What is the specific metabolic process that is affected? - Answer: a) Fats b) beta-oxidation Question: These disorders belong to what group of metabolic disorders? MCAD LCAD VLCAD Carnitine uptake ...