Emanuel syndrome is an inherited chromosomal abnormality resulting from 3:1 
meiotic segregation from parental balanced translocation carrier 
t(11;22)(q23;q11), mostly of maternal origin. It is characterized by mental 
retardation, microcephaly, preauricular tag or sinus, ear anomalies, cleft or 
high arched palate, micrognathia, congenital heart diseases, kidney 
abnormalities, structural brain anomalies and genital anomalies in male. Here 
in, we describe a female patient with supernumerary der(22) syndrome (Emanuel 
syndrome) due to balanced translocation carrier father t(11;22) (q23;q11). She 
was mentally and physically disabled and had most of the craniofacial 
dysmorphism of this syndrome. Our patient had cleft palate, maldeveloped corpus 
callosum and hind brain with normal internal organs. Additionally, 
arachnodactyly, hyperextensibility of hand joints, abnormal deep palmar and 
finger creases, extra finger creases and bilateral talipus were evident and not 
previously described with this syndrome. Cytogenetic analysis and FISH 
documented that the patient had both translocation chromosomes plus an 
additional copy of der(22) with karyotyping: 47,XX,t(11; 
22)(q23;q11),+der(22)t(11;22)(q23;q11). We postulated that this rare chromosomal 
complement can arise from; 2:2 segregation in the first meiotic division of the 
balanced translocation father followed by non-disjunction at meiosis II in the 
balanced spermatocyte.