[Molecular diagnosis of CHARGE syndrom].
CHARGE (coloboma, heart defects, atresia choanae, retarded growth and development, genital anomalies, ear anomalies) is a genetically heterogeneous syndrome in which CHD7 (chromodomain helicase DNA-binding protein 7) mutations account for about 60% of the cases. There is no obvious genotype-phenotype correlation but the majority of the patients fulfils the diagnostic criteria previously proposed. CHARGE syndrome should be considered in children with facial asymmetry, colobomas or choanal atresia; ear abnormalities are of great diagnostic value.
Pedersen
Anne-Marie Bisgaard
AM
Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling. anne-marie.bisgaard.pedersen@rh.hosp.dk
Skovby
Flemming
F
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002754:Choanal Atresia / Q000175:diagnosis / Q000235:genetics*; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D020732:Cytogenetic Analysis; D003937:Diagnosis, Differential; D004423:Ear / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005817:Genetic Counseling; D005835:Genitalia / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D013577:Syndrome