Emanuel Syndrome with a Distinctive Phenotype: A Case Report and Review with an Indian Perspective

Abstract

Emanuel Syndrome (ES) is a chromosomal disorder characterised by the presence of an extra copy of chromosome 22, specifically a derivative 22 chromosome, which results from an unbalanced translocation involving chromosomes 11 and 22, due to 3:1 meiotic non disjunction. This leads to the gain of the 11q23-qter and 22pter-q11.2 regions. The syndrome is marked by developmental delay, facial dysmorphism, heart defects, genital abnormalities and renal anomalies. In most cases, one of the parents is a carrier of a balanced translocation, t(11;22). The present case is of a two-month-old male child suffering from failure to thrive and developmental delay, who was found to have a karyotype of 47,XY,+der(22)t(11;22)(q23.3;q11.2)dmat, resulting from a maternal balanced translocation, t(11;22)(q23;q11.2). Molecular cytogenetic testing confirmed the presence of partial trisomy 22q11.2 in the proband. This report presents a case of partial trisomy 22q11.2 resulting from a maternal balanced translocation between the long arms of chromosomes 11 and 22, associated with Congenital Heart Defects (CHD) and Congenital Diaphragmatic Hernia (CDH). Approximately, 11 comparable cases have been reported in the Indian population, with variations in breakpoints observed in some. However, none of these previous cases have identified CDH as a phenotypic feature, making this case particularly noteworthy.

Keywords

• congenital diaphragmatic hernia
• derivative 22
• unbalanced translocation