Abstract: 　Objective　To explore the clinical features of chromosome 1p32-p31 deletion syndrome. Method　The clinical data of chromosome 1p32-p31 deletion syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results　A 6-month-old boy with gestational age of 39+2 weeks and birth weight of 2.2 kg, suffered from mild asphyxia at birth and development retardation after birth. The child had special facial features including prominent forehead and occiput, telecanthus, narrow palpebral fissures, low set ears, laigh nose bridge, small nose, thin lip, small chin and high palate. Furthermore, he had right undescended testis, hydrocele of left testis, short fingers and toes, and slightly lower muscle tension of the limbs. Gesell development scale demonstrated that the child had moderate global developmental delay with a full scale score of 46. The Brain MRI showed less white matter, widened bilateral lateral ventricles, and the slender posterior part of the corpus callosum. EEG displayed slightly slower background rhythm than that of health children with the same age. Brainstem auditory evoked potentials showed response threshold of 65 dB in left ear and 40 dB in right ear. High-throughput DNA sequencing revealed an 11.84 Mb deletion in the 1p32.3-p31.3 region (chr1:54560001-66400000, hg19), containing multiple genes including the NFIA gene. Conclusion　Clinical features of chromosome 1p32-p31 deletion syndrome include hypoplastic corpus callosum, ventriculomegaly or hydrocephalus, macrocephaly, facial dysmorphisms, different degrees of developmental retardation, and some have urinary system abnormalities. The NFIA gene is a key gene responsible for the disease.