title: Trisomy 21 and Rett syndrome: a double burden.
abstract: Rett syndrome is a severe neurodevelopmental disorder generally affecting girls. Affected individuals are apparently normal at birth but later pass through a period of regression with loss of hand and communication skills and the development of hand stereotypies and dyspraxia. Mutations in the methyl-CpG binding protein 2 (MECP2) gene, have now been found to cause Rett syndrome in up to 80% of classical cases. We report a girl with Down syndrome, one of three children with birth defects in a family of five. From the age of 18 months she developed symptomatology considered by her primary physician to be very characteristic of Rett syndrome. However, this remained a clinical diagnosis till the age of 12 years. Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in addition to trisomy 21, has now been possible. The presence of one neurological or developmental disorder does not necessarily preclude a diagnosis of Rett syndrome.
authors.affiliation: Centre for Child Health Research, The University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia. hleonard@ichr.uwa.edu.au
authors.forename: H
authors.initials: H
authors.lastname: Leonard
authors.forename: L
authors.initials: L
authors.lastname: Weaving
authors.forename: P
authors.initials: P
authors.lastname: Eastaugh
authors.forename: L
authors.initials: L
authors.lastname: Smith
authors.forename: M
authors.initials: M
authors.lastname: Delatycki
authors.forename: I
authors.initials: I
authors.lastname: Witt Engerström
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
mesh_terms: D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D004314:Down Syndrome / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D015518:Rett Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; C066141:MBD1 protein, human; D014157:Transcription Factors