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Table 1 Clinical features of reported patients with 8q12 microdeletions encompassing the CHD7 gene, including the present case

From: CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

Clinical feature 1 2 3 4 5 6 7 8 9
Sex F F F M M M M F M
Ocular coloboma + + + + + + - - +
Choanal atresia + - - - - - - - -
External ear anomaly + + + - + + + + +
Hearing deficit + + - + nr + - - +
Cleft lip/palate - - - - - + - - -
Larynx malformation - - - - - + - - -
Facial palsy + - - - + + - - +
Congenital heart defect + + + + + + + + +
Genital anomaly nr - + + + + - - +
Urinary malformation - - - - - + - - -
Temporal bone malformation - + nr nr - + - - +
Growth deficiency - + + nr - + - - +
Developmental delay + + + nr nr + - - +
Phenotype C C C C C C No C No C C
Genetic imbalance t(6;8)(6p8p;6q8q) Del8q12 Del8q11.2-q13 Del ex1 Del ex4 Del CHD7 Del8q12 Del8q12.1q12.3 Del RAB2-5’UTR/ex1 CHD7
  1. 1: [17]; 2: [18]; 3: [1921]; 4-5-6: [15]; 7: [22]; 8: [11]; 9: Present patient
  2. C : CHARGE nr : not reported