Genetics Flashcards
a baby born with increased nuchal folds and puffy feet.
what is the congenital disorder?
what complications are associated with disorder?
turners syndrome
coarctation of the aorta infertility hypothyroidism UTI osteoporosis hypertension
what are the complications associated with downs syndrome?
AVSD, ASD, VSD learning disability hypothyroidism immunity early onset alzheimers disease
what is a syndrome?
pattern of clinical features occurring together
what is a genetic cause of polysyndactyly?
Hox D13
what is a genetic cause of acrocephalopolysyndactyly?
Greig / GLI3
what is a sequence with regards to genetic disorderS?
one abnormality that leads to another
what is the pierre-robin sequence?
small chin to cleft palate
what is the fetal akinesia sequence?
reduced fetal movement, breathing, abnormal limb position/ contractors, cleft palate = lung hypoplasia
what is a deformation and disruption?
deformation - organ parts are there but abnormal
destruction - organ parts are absent
what is an association?
2 or more features occur together more often than expected by change
what is the VATER association?
VATER Vertebral / VSD Anorectal atresia Trachea-Esophageal fistula Radial anomalies
what is syndrome?
a distinct group of symptoms and signs which associated together form a characteristic clinical picture or entity
list genetic investigations that can be carried out for learning disability.
microarray
fragile X
genome analysis
what are the features of 22q11 deletion syndrome?
Cleft palate Abnormal facies Thymic hypoplasia Calcium Heart problems 22 q 11 deletion.
what are features associated with turners syndrome?
co-arctation of the aorta hypertension UTI osteoporosis primary amenorrhea & infertility
lymphedema
low hair line
wide sandal gap
wide spaced nipples
