A dominantly inherited syndrome (microcephaly,short stature,peculiar facies,mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20

Summary Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) was characterized in blood samples obtained from 97 randomly selected males with enzyme deficiency from various regions of Guangdong Province, China. Nine new variants (Gd Kaiping, Gd Boluo, Gd Huiyang, Gd Gaomin, Gd Qing-Baijiang, Gd Gaozhou, Gd Huazhou, Gd Nanhai, and Gd Guangzhou) were identified. Of the 31 variants found in this province, Gd Kaiping, Gd Taiwan-Hakka, Gd Haad Yai, Gd Haad Yai-like and Gd Huiyang occurred most frequently. The frequency of each variant was calculated. The results demonstrated that the genetic heterogeneity of G6PD deficiency was high in this area.