LETTER TO JMG Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly


S ubmicroscopic deletion del(9)(q34.3) is a rare constitutional microdeletion syndrome involving the gene-rich subtelomeric region of the long arm of chromosome 9, with about 30 cases reported. Visible constitutional 9q34 deletions are extremely rare, with only a few cases described. 10 12 The low prevalence of large terminal deletions at the 9q34… (More)


4 Figures and Tables