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- trisomy 13; congenital heart defects, deafness, rocker-bottom feet and severe learning disabilities.
- intrauterine growth retardation with facial clefts, ocular anomalies, and polydactyly.
- low serum alpha-fetoprotein (AFP), unconjugated oestriol and hCG on amnio
- trisomy 18. intrauterine growth restriction and a single umbilical artery.
Deletaion of maternal 15q12= Happy puppet. delayed speech, ataxia with a broad based gait, epilepsy. Strange affect characterised by inappropriate laughter.
- Deletion of paternal 15q12
- mental retardation and hyperphagia
- 12q24.1 defect
- Pulmonary stenosis
- Delayed puberty, short stature
autosomal dominant, in about 25% it is the result of spontaneous mutations; anterior subluxation of the lens is a feature.
- 4th branchial arch
- facial hypoplasia
- thymic hyoplasia=decreased t cell number and function
- parathyroid hypoplasia= hypocalcaemic tetany
- Transverse creases on the ear lobes.
Results from renal agenesis. Classical features include:
- Pulmonary hypoplasia
- Limb contractures
- Typical facies with the baby having low set ears, flattened nose and epicanthic folds
- clubbed feet
photosensitivity and an increased risk of malignancy.
- oculocerebrorenal syndrome; X linked:
- -Severe learning difficulties
- -renal tubulopathy.
- Large ears and big testicles
- The face is typically long and narrow, with a high arched palate
- In children: motor and speech delays and funny sounds hyperactivity
- Diagnosis of classic PKU requires:
- -Raised phenylalanine (Phe) levels
- -Normal plasma tyrosine levels
- -Increased urinary Phe metabolites
- -Normal cofactor (tetrahydrobiopterin) concentrations.
Phenylalanine hydroxylase deficinency (#12)
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