Genetic counseling bo Study guides, Class notes & Summaries

Genetic Counseling Boards summary study guide verified 100% *Sickle Cell* Genetics Phenotype Diagnosis Treatment - *Genetics:* HbSS Gluexon6Val mutation in HBB gene chr. 11p15.4 *Phenotype:* Structurally abnormal Hb Manifests at 6-12 months (HbF --> HbA) Painful crises, anemia, organ damage, pulmonary HTN *Diagnosis:* Hb electrophoresis *Treatment:* hydroxyurea (stimulates HbF) *Alpha-thalassemia* Genetics Phenotype - *Genetics:* 2 alpha globin genes (4 allel...

Genetic Counseling Boards Practice Exam well analyzed A 30-year-old woman comes for genetic counseling to discuss her recent presymptomatic testing for Huntington disease (HD), which was negative. Her mother was diagnosed with HD at age 36, and her deceased maternal grandmother was diagnosed with HD at age 40. Neither had DNA testing. Which of the following is the MOST important next step to discuss with the woman? A. Confirmatory DNA testing of her mother is needed. B. Her mother and g...

Genetic Counseling Boards Review Exam Questions & Answers LMNA G608G - 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 see...

Genetic Counseling Boards study guide (latest updates) *Sickle Cell* Genetics Phenotype Diagnosis Treatment - *Genetics:* HbSS Gluexon6Val mutation in HBB gene chr. 11p15.4 *Phenotype:* Structurally abnormal Hb Manifests at 6-12 months (HbF --> HbA) Painful crises, anemia, organ damage, pulmonary HTN *Diagnosis:* Hb electrophoresis *Treatment:* hydroxyurea (stimulates HbF) *Alpha-thalassemia* Genetics Phenotype - *Genetics:* 2 alpha globin genes (4 alleles) ...

LMNA G608G correct answers 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 seen in their family given that she herself is quite...

Genetic Counseling Boards Review Questions latest updates LMNA G608G - 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...

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 seen in their family given that she herself is quite short and has fair skin, m...

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 seen...

Genetic Counseling Boards Review Questions and Answers (summer 2023/24)., Exams for Genetics

ACE inhibitors correct answers "the only anti-hypertensive medications associated with structural defects, Renal tubular dysplasia -> oligohydramnios, Potter's sequence, and pulmonary hypoplasia IUGR Hypocalvaria manifested by large anterior fontanel, vasodilation, severe fetal hypotension, anuria/oligura" Critical Period: 2nd-3rd trimesters Alcohol correct answers "Growth restriction CNS (intelligence & behavior) Characteristic facial features such as ptosis, short palpebral fissu...