Genetic Disorders Flashcards
16 y/o adolescent with newly diagnosed schizophrenia has history of language delay. Patient has long narrow face, small mouth, hypernasal speech, with history of cleft palate and ventricular septal defect. Syndrome?
Di-George Syndrome
Child has multiple hyperpigmented ovioid and smooth macules on the arms, chest, and back with freckling in both axillae. Mother also has macules, freckling in axilla, and optic tumor. What psychiatric symptoms does the child likely have?
Attention-Deficit/Hyperactivity Disorder
Which developmental disorders are associated with the same locus of chromosome 15, but with different phenotype expression?
Prader-Willi and Angelman
Genetic abnormality of velocardiofacial syndrome?
Gene deletion
Child w/ tumors in brain, heart, and kidneys, seizures, intellectual disability. Likely presents with symptoms of?
Autism
Psychotic adolescent with self-injurious behavior and chorea with elevated LFTs. Diagnois?
Wilson Disease
16 y/o male with persistent irritability, depression and impulsivity despite many medications and therapy. On exam, patient has tremor, drooling, speech problems and brownish tinge of cornea. Screening tool?
24-hour urine copper test
Diagnosis for a 14 year old adolescent with defiant behavior at home and school who presents with generalized dystonia, wing-beating action tremor in the arms and forced grin?
Wilson Disease
Highly comorbid with Fragile X?
ADHD
Common finding in 7 y/o with worsening vision in left eye, headaches, skin changes, father also had same skin change, edema of optic disc seen on exam?
Cafe Au Lait spots
How can you determine carrier status for Fragile X syndrome for pre-pregnancy planning?
Southern Blot
What is comorbid with syndrome of hypotonia, obesity, small hands, short stature, micro-orchidism, and paternal deletion of 15q11-15q13
Compulsions
Child with hyperphagia, obesity, intellectual disability, aggressive behavior, and obsessive-compulsive tendencies. Result of what genetic error?
Deletion
15 y/o male with intellectual disability, short, hypogonadism, low muscle tone. What other symptom may be present?
Hyperphagia
What intellectual disability is most commonly associated with OCD?
Prader-Willi
How do you rule out a particular condition associated with Downs Syndrome?
Echocardiogram
MRI shows symmetrical basal ganglia lesions, child gets up from floor by pushing up with hands, grows progressively weaker. Diagnosis?
Mitochondrial disorder
Young child with seizures, ID, port wine stain on half of face. Diagnosis?
Sturge-Weber Syndrome
What has contributed to the improved ability to identify the ideology for intellectual disability?
Genetic factors
17 y/o patient with malar distribution rash, macules on arms, bright lesions in cortex on MRI indicating tubers. What is the associated psych diagnosis?
Autism Spectrum Disorder
Psychiatric disorders most frequently concurrent with Neurofibromatosis Type 1?
Autism, Depression, ADHD
Child with ADHD having more difficulty getting up from floor to chair over past 6 months. Diagnosis?
Duchenne Muscular Dystrophy
Child who repeatedly trips and sprains ankles, climbs up his legs using hands in order to stand. Diagnosis?
Duchenne Muscular Dystrophy
4 y/o with limited social skills, facial angiomas, hypopigmented spot, absence seizures?
Tuberous Sclerosis
To reduce intellectual disability in patients with homocystinuria, give which vitamin?
Vitamin B6
Karyoptyping is still the preferred test in?
Trinucleotide expansion
Genetic syndrome caused by microdeletion?
Williams Syndrome
In Rett and Fragile X syndromes, what is the function of Mecp2 (methyl-CpG-binding protein)
Transcription
8 y/o child with learning problems, scoliosis, various light brown spots on skin, now with increasing visual complaints, What would also be found on exam?
Axillary Freckling
Adopted 3 y/o with no newborn screening, epilepsy, ID, microcephaly, fair skin, blonde, blue eyes. What is the inborn error of metabolism?
Phenylketonuria
