An atypical 7Q11.2-Q21.11 deletion in a Williams-Beuren syndome patient

Results The proband, a female neonate, is the first child of healthy nonconsanguineous Chinese parents. She was born by uterine-incision delivery with intrauterine distress after 41 weeks of gestation. Her birth weight was 2.4 kg. She showed an distinctive facies including broad brow, periorbital fullness, epicanthal folds, short nose, long philtrum, small jaw and prominent earlobes. The cardiology ultrasound examination showed open foramen ovale without elastin arteriopathy such as supravalvular aortic stenosis, pulmonic stenosis. Her abdominal ultrasound examination showed right Duplicated kidneys. Her Karyotyping was 46, XX, del(7)(q11.1q11.23). We then performed array CGH for this patient and confirmed the deletion region of 21Mb from 7q11.2 to 7q21.11.