Card Set Information
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
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
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:
Typical facies with the baby having low set ears, flattened nose and epicanthic folds
photosensitivity and an increased risk of malignancy.
oculocerebrorenal syndrome; X linked:
-Severe learning difficulties
Large ears and big testicles
The face is typically long and narrow, with a high arched palate
: 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)