Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian 
translocation that is characterized by numerous anomalies. Over 100 patients 
with ES have been described in the literature. The phenotype of this syndrome 
varies but often consists of facial dysmorphism, microcephaly, severe 
intellectual disability, developmental retardation, congenital heart disease and 
genital anomalies. The present study describes a 2‑year‑old boy with multiple 
malformations, including facial dysmorphism, severe intellectual disability, 
growth retardation, congenital heart disease, cleft lip and palate, genital 
malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment. 
The karyotype of the patient was 47,XY,+del(22)(q13), and the maternal karyotype 
was 46,XX,t(11;22)(q25;q13),9qh‑,15p+. Single‑nucleotide polymorphism‑array 
analysis of the proband indicated a partial duplication of chromosomes 22 and 11 
at 22q11.1‑q11.21 and 11q23.3‑q25, respectively, which confirmed the diagnosis 
of ES. To date, no cases of ES have been reported in mainland China. The present 
case further emphasizes the necessity and importance of high‑resolution 
techniques for genetic diagnosis and for subsequent genetic counseling. The 
present study contributed to the phenotypic delineation of ES and confirmed the 
first ES patient in mainland China.