title: Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.
abstract: Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age. We report on a girl with the same pattern of malformations, who has pure trisomy 1 q43: duplication of the region (1) (q43) and the translocation of the terminal region of the other chromosome 1 to the derivative 1, narrowing down the critical region for the characteristic traits of severe developmental delay, macrocephaly and congenital cardiac malformations.
authors.affiliation: University Medical Center Nijmegen, Department of Pediatrics, Nijmegen, Netherlands. emorava@cukz.umcn.nl
authors.forename: E
authors.initials: E
authors.lastname: Morava
authors.forename: K E
authors.initials: KE
authors.lastname: Jackson
authors.forename: F
authors.initials: F
authors.lastname: Tsien
authors.forename: M R
authors.initials: MR
authors.lastname: Marble
mesh_terms: D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D011596:Psychomotor Disorders / Q000150:complications / Q000175:diagnosis; D014314:Trisomy / Q000235:genetics*