title: De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies.
abstract: Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a second case: a girl with a postnatal diagnosis of a de novo pure mosaic trisomy 1q1023.3 who has no urogenital or cardiac anomalies.
authors.affiliation: Department of Pediatrics, Horacio Oduber Hospital, Oranjestad, Aruba.
authors.forename: Shirley
authors.initials: S
authors.lastname: Lo-A-Njoe
authors.affiliation: Department of Genetics, Wilhelmina Children's Hospital, UMC Utrecht, 3584 EA Utrecht, Netherlands.
authors.forename: Lars T
authors.initials: LT
authors.lastname: van der Veken
authors.affiliation: Department of Pediatrics, Horacio Oduber Hospital, Oranjestad, Aruba.
authors.forename: Clementien
authors.identifier: 0000-0002-2219-856X
authors.initials: C
authors.lastname: Vermont
authors.affiliation: Department of Pediatrics, Horacio Oduber Hospital, Oranjestad, Aruba.
authors.forename: Louise
authors.initials: L
authors.lastname: Rafael-Croes
authors.affiliation: Department of Pediatrics, Horacio Oduber Hospital, Oranjestad, Aruba.
authors.forename: Vincent
authors.identifier: 0000-0002-2275-1361
authors.initials: V
authors.lastname: Keizer
authors.affiliation: Department of Genetics, Wilhelmina Children's Hospital, UMC Utrecht, 3584 EA Utrecht, Netherlands.
authors.forename: Ron
authors.initials: R
authors.lastname: Hochstenbach
authors.affiliation: Department of Genetics, Wilhelmina Children's Hospital, UMC Utrecht, 3584 EA Utrecht, Netherlands.
authors.forename: Nine
authors.initials: N
authors.lastname: Knoers
authors.affiliation: Department of Genetics, Wilhelmina Children's Hospital, UMC Utrecht, 3584 EA Utrecht, Netherlands.
authors.forename: Mieke M
authors.initials: MM
authors.lastname: van Haelst