title: Supernumerary derivative (22) syndrome resulting from a maternal balanced translocation.
abstract: Supernumerary derivative (22) syndrome is one of the rare genomic syndromes. It is characterised by severe mental retardation, microcephaly, failure to thrive, ear anomalies, preauricular tags or sinus, cleft palate or high arch palate, microganathia, renal anomalies, congenital cardiac defects and genital abnormalities in males. In 99 percent of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. We report the first known case, a female neonate, of supernumerary derivative (22) syndrome from Malaysia.
authors.affiliation: Clinical Genetic Unit, Paediatric Institute, Hospital Kuala Lumpur, Jalan Pahang, Kuala Lumpur 50586, Malaysia.
authors.forename: B
authors.initials: B
authors.lastname: Afroze
authors.forename: L H
authors.initials: LH
authors.lastname: Ngu
authors.forename: A
authors.initials: A
authors.lastname: Roziana
authors.forename: M
authors.initials: M
authors.lastname: Aminah
authors.forename: A
authors.initials: A
authors.lastname: Noor Shahizan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D013577:Syndrome; D014178:Translocation, Genetic