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0?cm stretched penile length, SCH 900776 the third centile. Testing for the familial novel sequence variant in the CHD7 gene was positive (Fig. 2). Further testing of the maternal grandmother with bilateral hearing loss confirmed that she also had the familial novel sequence variant in the CHD7 gene. Physical exam revealed ear shape characteristic of CHARGE syndrome. Her height was at the 90th�C97th centile. The proband has two maternal aunts (Individuals II-1 and II-3) and one maternal uncle (Individual II-4). Both maternal aunts were found to be positive for the familial B3GAT3 novel sequence variant in the CHD7 gene. The maternal uncle was negative for this variant. The first maternal aunt at 18 years old was in good health with no clinical history findings suggestive of CHARGE syndrome. She was nondysmorphic and her height was at the 25th�C50th centile. Subsequent echocardiogram revealed a bicuspid aortic valve. A renal ultrasound and ophthalmology evaluation were normal. She did not have children at the time of initial diagnosis. The second maternal aunt was 26 years old and in good health with mild right-sided hearing loss, and an ear shape characteristic of CHARGE syndrome on the right. Her height was at the 25th to 50th centile. Echocardiogram and renal ultrasound have not been completed. This aunt has two sons (maternal first cousins of proband; Individuals III-6 and III-7). Testing of the first son was positive for AUY-922 mouse the familial CHD7 variant. He was 3 years 10 months, with a history of speech delay, mild learning difficulties requiring an individualized education plan in school and an ear shape characteristic of CHARGE syndrome. He had a normal echocardiogram and renal ultrasound following the positive CHD7 familial variant analysis. Testing of the second son was negative for the CHD7 variant. He did not have any clinical features associated with CHARGE syndrome. The first maternal aunt of the proband (Individual II-1) later had her first child (Individual III-1). This male infant presented with a bilateral cleft lip and palate, laryngomalacia, left hydronephrosis and micropenis (2.5?cm stretched penile length at age 4 months,