Elite Study & Success Center

What are the 3 tenets of person-centred counselling? correct answers 1) Respect 2) Genuineness 3) Empathy What is respect in genetic counselling? correct answers Acceptance of patient What is genuineness in genetic counselling? correct answers Being yourself within the capacity of being a genetic counsellor What is congruence in genetic counselling? correct answers Agreement between a counsellor's inner and outward responses What is primary empathy in genetic counselling? correct ...

Holt-Oram Syndrome correct answers TBX5, AD, high penetrance, 1/3 de novo Upper limb defects (preaxial radial ray anomaly: radial, carpal and ulnar bones), congenital heart malformation (mostly Secundum atrial septal defect) and conduction disease. Refer to cardio, orthopedist, hand surgeon. Hereditary Hemorrhagic Telangiectasia correct answers AD, LOF mutations in ENG (40-60%), ACVRL1 (25-55%), or SMAD4 (1-2%), or GDF2 (rare). SMAD4 mutations can also cause Juvenile Polyposis Syndrome. L...

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 correct answers D 2. A 20-year-old man and his family are seen for genetic counseling to discuss his recent diagnosis of Charcot-Marie-Tooth (CMT) disease. After introductions, which of the following would be the BEST next step for the genetic counselor to take? A. explai...

T21 Risk by Maternal Age correct answers Age-------------------------------Risk 30 --------------------------------1/952 (.1%) 35 --------------------------------1/385 (.3%) 37 --------------------------------1/227 (.4%) 40 --------------------------------1/106 (.9%) 43 --------------------------------1/50 (3.1%) Risk of Any Chrom Abnl by Maternal Age correct answers Age--------------------------------Risk 30---------------------------------1/384 (0.3%) 35------------------------------...

Hereditary Breast and Ovarian Cancer correct answers BRCA 1/2 Breast 50-87% Second primary tumor 50-64% BRCA 1: 20-45% BRCA 2: 10-30% BRCA 2: Male breast 6-10% Li-Fraumeni Syndrome correct answers -Sarcoma, breast, leukemia, adrenal and many others -May present in almost every way (ie all family members with same cancers or all with different) -Adrenocortical carcinoma considered pathognomonic -50% have some type by 30, 90% by age 60 -TP53 accounts for 70% of individuals Beckwit...

Angelman Syndrome causes (expression and % of total) correct answers **paternal imprinting defect, should be maternal expression 5-7 kb deletion on maternal chr15q11.2-13 (60-70%) UBE3A maternal deletion (11%) Paternal UPD15 (3-7%) Angelman testing strategy and condition features correct answers methylation first since finds ~80% of cases then UBE3A seq and del/dup features: happy demeanor, abnormal gait, seizures, delayed/absent speech Prader-Willi Syndrome causes (expression and...

Deductive correct answers rigid framework, disregard info that does not fit into frame Synthesizers correct answers can take in info that confirms and challenges their framework can use large amounts of info to make decisions Confused reasoners correct answers not less intelligent but have not learned how to process info can not differentiate between trivial and important Spontaneous correct answers active communicators respond easily and expressively, tend to use humor and denial as de...

HBOC Genes and Inheritance correct answers - BRCA1, BRCA2 - Autosomal Dominant BRCA1 cancer risks correct answers Primarily breast, Ovarian, Male Breast, Prostate, Pancreatic BRCA2 cancer risk correct answers Breast, Ovarian, male breast, prostate, pancreatic, melanoma What ethnic population has an increased risk for HBOC And what is their carrier frequency correct answers Ashkenazi Jewish - 1:40 individuals carry one of three founder mutations Carney Complex Keystone Features co...

What causes inborn errors of metabolism? correct answers Enzyme deficiencies What causes the symptoms of IEMs? correct answers 1. Accumulation of substrate, or 2. Deficiency of product T/F: Individuals with IEMs usually have dysmorphic features correct answers F What is the usual inheritance pattern of IEMs? correct answers Recessive T/F: IEMs usually have effective treatment options correct answers T Why are IEMs common targets of NBS? correct answers Effective, preventive treat...

HBOC correct answers breast, ovarian, prostate, melanoma Familial Adenomatous Polyposis correct answers CHRPE (congenital hypertrophy of the retinal pigment epithelium) Li-Fraumini correct answers early breast, sarcoma, brain, leukemia, adrenocortical, choroid plexus tumors (childhood), fam hx childhood onset tumors Cowden correct answers Folliular Thyroid, Breast, uterine, macrocephaly, Lhermitte-Duclose disease (LDD)= cerebellar dysplastic gangliocytoma Cowden correct answers Papil...