Abstract: A 21-year-old woman with a short stature presented with primary amenorrhoea and a 45X karyotype, and
comparative genomic hybridization revealed 1p36 deletion and abnormal genes in multiple chromosomes to support the
diagnosis of Turner syndrome and monosomy 1p36 deletion syndrome. The main clinical features of this condition include
microsomia, poor sexual development, menoschesis, gigantorectum, absence of internal genitalia, sometimes with thyropenia
and low intelligence. This disease can be easily diagnosed for its heterogeneous clinical manifestations.