Genetics Flashcards
What is the most likely diagnosis for child presenting with delayed gross motor milestones, upward displacement of shoulder and abnormal lateral rotation of scapula when child if lifted with hands under the arm?
Duchenne Muscular Dystophy
other sign- Gower sign- way stand up
What is the most likely diagnosis for patient presenting with ataxia, absent speech, inappropriate bouts of laughter, microcephaly and seziures?
Angelman Syndrome
due to deletion of maternal material of chromosome 15
What is the most likely diagnosis for patient presenting with macrocephaly, developmental delay, ADHD, and more than 6 cafe-au lait macules?
Neurofibromatosis (NF) 1
What is the likely cause of precocious puberty signs in patient with NF-1?
optic glioma
peaks at age 4
What is the most likely diagnosis for pt presenting with signs consistent with supravalvular aortic stenosis, elfin like facies (full face, broad forehead, flattened nasal bridge, rounded full cheeks), strong expressive language skills, socially engaging and charming?
Williams Syndrome
due to mutation in elastin gene on chromosome 7q11.23
The description of multiple rings of iris hypoplasia that surround normal iris stroma in speckled appearance is consistent with..
Brushfield spots
What diagnosis is associated with Brushfield spots?
Down syndrome
What GI disease is associated with Down syndrome?
Celiac Disease
elevated ttG
What is the likely diagnosis of newborn with poor feeding/ sucking, polyhydramnios on prenatal ultrasound, decreased muscle mass, hypotonia and undescended testicle?
Myotubular myopathy
What is the genetic mutation associated with NF1?
mutation on long arm of chromosome 17
What is the most likely diagnosis for patient presenting with prolonged jaundice (direct elevated), pulmonic stenosis with VSD, butterfly vertebrae, and liver biopsy showing chronic cholestasis and paucity of interlobular bile ducts?
Alagille Syndrome (arteriohepatic dysplasia)
What is associated with type 2 jejunoileal atresia (solid, fibrous cord connects blind ends of proximal and distal bowel)?
Maternal cocaine and tobacco use
What is the most likely diagnosis for patient with pulmonic stenosis, short stature, pectus excavatum, webbed neck, low set ears, hypertelorism, lymphedema, and bleeding diatheses (i.e factor 11 deficiency)?
Noonan syndrome
what is the most likely diagnosis for patient presenting with hypotonia, flat midface, epicanthal folds, AV canal defect and brushfield spots?
Down syndrome
trisomy 21
What does VACTERL stand for?
V-vertebral A- anal atresia C- cardiac T- trachae E- esophageal R- renal L-limb defects
What is the most likely diagnosis for patient with ADHD, intellectual disabilit, hypertension due to renal artery stenosis, supravalvular aortic stenosis, and elfin like facial features (broad forehead, medial eyebrow flare, flattened nasal bridge)?
Williams Syndrome
What is the genetic abnormality that results in Williams syndrome?
7q11.23 deletion
What is the most likely diagnosis for patient with refusal to bear weight and Xray showing unilateral anterolateral angulation (bowing) if the tibia that progresses to fracture? What disease is it associated with?
Congenital pseudoarthrosis; NF type 1
What is the most likely diagnosis for child with choanal atresia, GU deformity, cardiac deformity, micropenis/ cryptorchidism, developmental delay and coloboma of retina?
CHARGE syndrome
What is the most likely diagnosis for patient presenting with VSD (holosystolic harsh murmur), hypocalcemia, absent thymus, and small cupped ears?
DiGeorge Syndrome (due to microdeletion on chromosome 22)
What does VACTERL stand for?
V: vertebral A: anal atresia C: cardiac T: tracheoesophageal E: esophageal atresia R: renal L: limb
What is the most likely diagnosis for male patient with testicular volume less than 5 ml (even as adolescent), gynecomastia, intellectual disability, scoliosis, poor motor skills, socially awkward, and narrow shoulders?
Klinefelter Syndrome
47,XXY
