Genetics/mutations/mishaps Flashcards
male, cries like cat, microcephaly w/ protruding metopic suture, moon-face, hypertelorism, epicathal folds
Cri-du-Chat
deletion of 5p
newborn 5.8lbs, closed fists with index finger overlapping 3rd digit and his 5th overlapping 4th, microcephaly, prominent occiput, micrognathia, rocker-bottom ft
Edwards syndrome
trisomy 18
infant: hypotonia, flat face, upward palpebral fissures epicathal folds, dysplasia of pelvis, cardiac malformations, simian crease, hypoplasia of 5th finger, high arched palate
Downs
21
Cleft lip, flexed fingers with polydactyly, ocular hypotelorism, bulbous nose, low-set malformed ears, small abnormal skull, cerebral malformation, cardiac malformation, hypoplastic ribs
Patau’s syndrome
13
Osteogenesis imperfecta defect
mutation in type 1 collagen
type of collagen in OI is important for
structural protein: skin, sclera, bone, tendon, ligament
Marfan syndrome defect
mutation in fibrillin-1 gene
AD
mc feature in Marfan syndrome
skeletal manifestations (arachnodactyly, hypermobility of joints), ectopia lentis, and aortic root dilatation
Kartageners syndrome classic triad
situs inversus
recurrent sinusitis
bronchiectasis
kartageners syndrome defect
dismotile cilia; AR
dynein arm defect
short height, high arched palate, widely spaced nips, 45XO
Turner Syndrome
Turner Syndrome is R/F for?
Osteoporos (low Estrogen)
Coarctation of Aorta
Klinefelter syndrome carries a risk for
Increased risk of male Breast cancer
Lesch Nyhan syndrome enzyme deficiency
AR disorder deficiency of
Hypoxanthine-guanine phosphoribosyl transferase (HGPRT)
C/F of LNS?
presents around age 6 months w/ hypotonia and persistent vomiting
worsens to: MR, choreoathetosis, spasticity, dysarthric speech dystonia and self mutilation
Increased uric acid levels in LNS deposit where
Gouty arthritis, tophus formation and obstructive nephropathy
Rx LNS
allupurinol and adequate fluids
Marfans syndrome genetics
AD disorder of Fibrillin-1 gene
Congenital contractural arachnodactyly is
AD condition in mutation of Fibrillin-2 gene
Congenital contractural arachnodactyly c/f
tall stature
arachnodactyly
multiple contractures involving large joints
Ocular and CV symptoms absent
3-4 months of age, hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia
doll-like face, thin extremities, short, protuberant abd
Von gierkes disease:
Glucose 6 phosphatase def
type I glycogen storage disease
Hepatomegaly, first wk of life: floppy baby w/ feeding difficult, macroglossia, HF
Pompes disease: acid maltase def
hypertrophic cardiomyopathy
Hepatomegaly, hypoglycemia, hyperlipidemia, growth retardation
elevated liver transaminases, fasting ketosis, NORMAL lactate and uric acid concentration;
Dx?
Type III glycogen storage disease: glycogen debranching enzyme def
Cori’s disease
Niemann pick disease enzyme
Sphingomyelinase def
Tay sachs disease enzyme
B-hexosaminidase A def
How to differentiate Niemann pick from Tay sachs?
N: Hepatosplenomegaly, Areflexia
TS: hyperreflexia, No liver
Failure to thrive, bilateral cataracts, jaundice, hypoglycemia, hepatosplenomegaly, MR; Dx?
Galactosemia
Galactosemia enzyme def
galactose 1-P Uridyl transferase deficiency
Patients w/ galactosemia are at increased risk for
E.coli neonatal sepsis
Galactokinase def present w/
cataracts only, otherwise asymptomatic
Gal 4 epimerase def presnt w/
galactosemia symptoms
hypotonia and nerve deafness
AKA sweat test for Cystic fibrosis
Quantitaive pilocarpine iontophoresis
Duchennes muscular dystrophy gentic problem
XLR deletion of dystrophin gene Xp21
Dx PKU
Newborn screening (tandem mass spectrometry) Quantitaive AA analysis (Incr Phenylalanine levels)
Myotonic dystrophy genetics
AD CTG repeak on DMPK gene on Chromosome 19q13.3
Myotonic Dystrophy C/F
Onset 12-30
facial weakness
handgrip myotonia
dysphagia
Myotonic dystrophy comorbities
Arrhythmias
cataracts
Balding
Testicular atrophy/infertility
Duchenne Becker genetics
XLR deletion of dystrophin on Chromosome Xp21
Complications of cryptochidism 4
Inguinal hernia
testicular torsion
subfertility
testicular cancer
Beckwith wiedemann syndrome c/f (5)
Fetal macrosomia, rapid growth until late childhood, omphalocele or umbilical hernia macroglossia hemihyperplasia
BWS pathogenesis
Deregulation of imprinted gene expression in chromosome 11p15
Complications of Beckwith Wiedemann syndrome
Wilms tumor
Hepatoblastoma
Check what patients with BWS
Abd USG
AFP
every 3 month from birth to age 4-8 yrs
Down syndrome patient with gait problems, behavioral changes, autonomic dysfunction, hypotonic, hyperreflexic; Wat happened?
Atlantoaxial instability
usually posterior transverse ligament
