title: Emanuel syndrome due to unusual segregation of paternal origin.
abstract: 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.
authors.affiliation: Clinical Genetics Department, National Research Centre, Cairo, Egypt. mszaki60@internetegypt.com
authors.forename: M S
authors.initials: MS
authors.lastname: Zaki
authors.forename: A M
authors.initials: AM
authors.lastname: Mohamed
authors.forename: A K
authors.initials: AK
authors.lastname: Kamel
authors.forename: A M S
authors.initials: AM
authors.lastname: El-Gerzawy
authors.forename: M O
authors.initials: MO
authors.lastname: El-Ruby
mesh_terms: D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D005192:Family Health; D005220:Fathers; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*