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Keywords: Chromosomal abnormalities; Chromosomal deletions; Clinical cytogenetics; Dysmorphology; Meiosis

J. Villalta Fallas; F. Suarez Obando; M. Guerra Gomez; R. Quero Angarita; C. Manotas Ahumada; A. Paredes Grijaldo

Affiliation: Universidad Pontificia Javeriana, Bogota, Colombia

Emanuel syndrome (ES) is an unbalanced translocation syndrome, an inheritable chromosomal abnormality also known by the names of: derived syndrome 22, derived syndrome 11:22, partial trisomy 11:22 or supernumerary syndrome or der (22) t (11; 22). It originates generally from an inadequate 3: 1 segregation process in meiosis I during gametogenesis, in a phenotypically normal carrier with a balanced translocation, which causes the presence of a supernumerary derived chromosome 22. Patients with Emmanuel syndrome are characterized by a characteristic phenotype, which consists of facial dysmorphism (broad forehead, epicanal folds, inferior palpebral fissures, wide and flat nasal bridge, filter and long nasolabial groove, micrognathia) microcephaly, mental retardation severe, delay in development milestones and other reported abnormalities especially in men: congenital heart defects, renal and genital anomalies.

The diagnosis should be suspected in those patients with characteristic phenotypic findings and associated symptoms. It is established karyotypically, when it is identified in the proband the duplication of 22q10-22q11 and the duplication of 11q23-qter in a chromosome 22 derived supernumerary. Its incidence is unknown and a little more than 200 cases have been described in the world literature.

We present the case of a male patient of 14 months of age, with Emanuel syndrome, confirmed by aCGH study where a pathogenic duplication detected in the 11q23.3q25 chromosomal region of a 18.21 Mb size and a second duplication of 22q11.1q11.21 with a size of 5.1 Mb and a G banded karyotype of 25 metaphases that presents a marker chromosome, indicating a probable microduplication syndrome