title: A clinical and molecular analysis of a patient with Emanuel syndrome.
abstract: 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.
authors.affiliation: Department of Cardio‑Thoracic Surgery, Hunan Children's Hospital, Changsha, Hunan 410007, P.R. China.
authors.forename: Jin-Wen
authors.initials: JW
authors.lastname: Luo
authors.affiliation: Department of Respiratory Medicine, Hunan Provincial People's Hospital, Changsha, Hunan 410001, P.R. China.
authors.forename: Huan
authors.initials: H
authors.lastname: Yang
authors.affiliation: The Clinical Center for Gene Diagnosis and Therapy of The State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China.
authors.forename: Zhi-Ping
authors.initials: ZP
authors.lastname: Tan
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Hospital, Changsha, Hunan 410007, P.R. China.
authors.forename: Ming
authors.initials: M
authors.lastname: Tu
authors.affiliation: Department of Respiratory Medicine, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China.
authors.forename: Hong
authors.initials: H
authors.lastname: Luo
authors.affiliation: Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China.
authors.forename: Yi-Feng
authors.initials: YF
authors.lastname: Yang
authors.affiliation: Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China.
authors.forename: Li
authors.initials: L
authors.lastname: Xie
mesh_terms: D000328:Adult; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014178:Translocation, Genetic