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33 Cards in this Set

  • Front
  • Back
How do you increase N excretion in Hyperammonemia
w/ Arg or citrulline, Na benzoate, Na phenylacetate, Na phenylbutyrate
Biotinidase def
– cleaves biotin peptides released in proteolytic degradation
– def -> seizures, ataxia, hypotonia, developmental delay, skin rash, alopecia
– tx kids w/ 5-20 free mg/day
(recombinant human iduronidase) for MPS1
(recombinant human arylsulfatase B) forMPS VI
Oncogenic potential of replication-competent retrovirus
– Death
– Insertional mutagenesis
– Altered germ line
– Infections from infectious viral particles formed by recombination
PKU incidence
– 1/15,000 to 1/20,000 in US
– More common in N. European ancestry (carrier frequency is about 1/50)
PKU inheritance pattern
– AR w/ variable expression
– due to varying levels of enzyme activity and other epigenic effects that may modulate Phe (absorption in digestion, transport across the BBB)
PKU mutations
– Allelic heterogeneity
– over 400 mutations in the phenylalanine hydroxylase gene on 12q
– most are compound heterozygotes (two different mutations w/in the gene)
Fetal intracranial hemorrhage types
– Traumatic is subdural/subarachnoid hemorrhage
– Asphyxia is intraventricular hemorrhage
TORCH, what do each of the organisms cause
– Toxo, CNS damage and chorioretinitis
– Others are Listeria and Syphilis, CNS damage and liver dysfunction
– Rubella causes congenital heart and eye defects, CNS damage, neonatal hepatitis
– CMV, CNS damage, neonatal hepatitis, chorioretinitis
– Herpes, CNS damage, eye damage, neonatal hepatitis
What is the most common fetal TORCH outcome
Growth retardation and abnormalities of brain, eyes, liver, hematopoietic system and heart are most common
RDS complications
intraventricular hemorrhage, Patent ductus arteriosus, and Necrotizing enterocolitis – tx w/ Bronchopulmonary dysplasia and Rentrolental fibroplasias
Marfans incidence
1/10,000, 25% new mutations
Marfans inheritance pattern
AD, variable expression
Marfans Mutations
– Allelic heterogeneity
- various mutations within the FBN1 gene on chromosome 15q21
- protein is named fibrillin
NFI incidence
1/3000, 50% are new mutations
NF1 inheritance
AD, variable expression, nearly complete penetrance
NF1 mutations
Allelic heterogeneity, NF1 gene chromosome 17q, protein is neurofibromin
Trisomy 13
– 1/12,000 births
– Mean life expectancy 130 days
– 86% die during the first year
– Microcephaly, scalp defects, clefts, microphthalmia, polydactyly, cardiac defects, renal anomalies
4p minus syndrome
invovles cleft palate
Wolf-Hirschorn syndrome
involves cleft palate
22q Deletion Syndrome
– Cleft palate/submucous cleft palate, velopharyngeal insufficiency
– Conotruncal heart deftects
– Hypocalcemia
– Immune dysfunction (T-cells)
– Learning disabilities, psychiatric disorders
Van der Woude Syndrome
– Often very subtle clues, Lip pits
– IRF6 on 1q (TF)
Popliteal pterygium syndrome
– IRF6 on 1q (TF)
– same gene as Van der Woude syndrome
– abnormal morphogenesis of forebrain
– Etiology is heterogeneous
– maternal diabetes, trisomy 13, Smith-Lemli-Opitz syndrome (defect in cholesterol biosynthesis), SHH, TGIF, ZIC2, PTCH
Native American Myopathy
– AR condition in Lumbee
– cleft palate, congenital joint contractures, club feet, hypotonia and susceptibility to malignant hyperthermia with anesthesia
Robin Sequence
– micrognathia (small jaw), glossoptosis, cleft palate – Heterogeneity
– Malformational and deformational causes
– Connective tissue, chromosomal, oligohydramnios, neurogenic hypotonia
Stickler syndrome
– Robin sequence
– Myopia/retinal detachment
– Hearing loss
– Arthropathy
– Caused by mutations in Col 2A1, Col 11A1, Col 11A2 (lack eye findings)
– Locus heterogeneity refers to identical clinical symptoms caused by mutations at 2 or more different loci
TF’s involved in cleft palate
Array CGH is comparative genomic hybridization
– Can detect deletions or duplications at 80-200 kb size using 800 clones spread throughout genome
– Average band size on metaphase chromosome 3.5-5 Mb
Prader-Willi inheritance pattern
Microdeletion, uniparental disomy or imprinting center defect
Prader-Willi incidence
1/10,000 to 1/15,000
Prader-Willi mutations
Absence of expression of the paternally contributed Prader-Willi/Angelman syndrome region on chromosome 15q11.2-q13