The incidence of chromosome 1p36 deletion syndrome in an individual is generally indeterminate, with an incidence of 1/5,000 – 1/10,000 in the population. Chromosome 1p36 deletion syndrome, a disorder induced by the absence of the corresponding segment of chromosome 1, p36, is the most common type of chromosome end deletion syndrome. The clinical features of chromosome 1p36 deletion syndrome are short stature, microcephaly, and forehead protrusion, as well as intermediate dysplasia, pointed chin protrusion, ear asymmetry, loss of hearing, developmental anomalies, epileptic seizures, developmental delay, and congenital heart disease, and so on. It is essential for pregnant women to follow medical advice during pregnancy to undergo the relevant screening tests, and to consider the need to terminate the pregnancy under the guidance of a specialist once fetal malformations have been diagnosed.