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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...

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...

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...

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 ...

A woman is seen for genetic counseling because her three year old son was recently diagnosed with Duchene's Muscular Dystrophy. She is feeling very guilty about the diagnosis and the fact that she passed along this disease to her son. Her son's physician has referred her to see a cardiologist on...