102 Emanuel syndrome – case report of a rare unbalanced translocation syndrome

Abstract

<h3></h3> Emanuel syndrome is a rare syndrome characterized by prenatal and postnatal growth retardation, hypotonia, severe mental retardation, microcephaly with characteristic facial features including micrognathia, protruding forehead, broad and flattened nasal root, long and pronounced philtrum, ear deformities with prearicular pits and/or appendages, high or cleft palate and congenital heart defects, kidney anomalies and genital anomalies in men. It is an unbalanced translocation syndrome caused by a 3:1 meiosis I malsegregation during gametogenesis in a phenotypically normal, balanced translocation carrier parent. The exact incidence of the syndrome is unknown but it is estimated that there are about 500 patients worldwide with this syndrome. We report a male newborn from the mother’s 4th pregnancy and 1st birth in which a diagnostic process, done due to intrauterine growth retardation, raised a suspicion of Dandy Walker malformation. After birth, specific characteristics were noticed that raised suspicion of Emanuel syndrome. The diagnosis of Emanuel syndrome is made by detecting duplication 22q10-22q11 and duplication 11q23-qter on the supernumerary derivative chromosome 22 [der (22)], so extensive diagnostics was performed on our patient, including genetic analysis. Genetic analysis confirmed the karyotype 47, XY, + der (22) t (11; 22) (q23, q11.2) mat; CMA and FISH confirmed that it indeed was Emanuel syndrome. Cytogenetic analysis of family members revealed that the mother was a carrier of a balanced translocation between the long arms of 11th and 22nd chromosome that she inherited from her father, and we found the same translocation in one of the mother’s sisters. The outcomes of future pregnancies of a parent who is a carrier of balanced translocation t(11; 22) are varying from the possibility of having a healthy child, a child who has Emanuel syndrome, a child who is a carrier of balanced translocation t(11; 22), but also having repeated spontaneous miscarriages. Prenatal diagnosis in these cases is highly recommended. It is necessary to make a diagnosis as soon as possible in order to improve the quality of life and prolong the survival of the patient but also to give timely genetic counselling advice to family members.