학술논문
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
Document Type
Academic Journal
Author
El Khattabi L; Cochin Institute, INSERM U1016, Paris, France.; Cytogenetics Department, APHP, Cochin Hospital, Paris Descartes University, Paris, France.; Jaillard S; Cytogenetics and Cell Biology Department, Rennes University Hospital, Rennes, France.; Andrieux J; Medical Genetics Department, Lille Hospital, Lille, France.; Pasquier L; Medical Genetics Department, Rennes University Hospital, Rennes, France.; Perrin L; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Capri Y; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Benmansour A; Pediatrician, Oran, Algeria.; Toutain A; Department of Genetics, Tours University Hospital, Tours, France.; Marcorelles P; Department of Pathology, CHU Brest, France.; Vincent-Delorme C; Department of Genetics, Arras Hospital, Arras, France.; Journel H; Department of Medical Genetics, CHBA, Vannes, France.; Henry C; Cytogenetics and Cell Biology Department, Rennes University Hospital, Rennes, France.; De Barace C; Department of Pediatrics, Saint-Brieuc Hospital, Saint-Brieuc, France.; Devisme L; Department of Anatomy and Cell Pathology, CHRU Lille, France.; Dubourg C; Molecular Genetics Department, Rennes University Hospital, Rennes, France.; UMR 6290, IGDR, Medical School, Rennes, France.; Demurger F; Medical Genetics Department, Rennes University Hospital, Rennes, France.; Lucas J; Cytogenetics and Cell Biology Department, Rennes University Hospital, Rennes, France.; Belaud-Rotureau MA; Cytogenetics and Cell Biology Department, Rennes University Hospital, Rennes, France.; UMR 6290, IGDR, Medical School, Rennes, France.; Amiel J; Department of Genetics, APHP, Necker-Enfants Malades University Hospital, Paris, France.; Malan V; Laboratory of Cytogenetics, APHP, Necker-Enfants Malades Hospital, Paris Descartes University, Paris, France.; De Blois MC; Laboratory of Cytogenetics, APHP, Necker-Enfants Malades Hospital, Paris Descartes University, Paris, France.; De Pontual L; Department of Pediatrics, Jean-Verdier Hospital, APHP, Paris 13 University, Bondy, France.; Lebbar A; Cytogenetics Department, APHP, Cochin Hospital, Paris Descartes University, Paris, France.; Le Dû N; Cytogenetics Department, APHP, Cochin Hospital, Paris Descartes University, Paris, France.; Germain DP; Department of Genetics, Raymond Poincaré University Hospital, Garches, France.; Pinard JM; Department of Neuropediatrics, Raymond Poincaré University Hospital, Garches, France.; Pipiras E; Cytogenetics, APHP, Jean-Verdier University Hospital, Bondy; Paris 13, Sorbonne Paris Cité, UFR SMBH, Bobigny, France; Inserm, U676, Paris, France.; Tabet AC; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Aboura A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; INSERM U676, and Paris VII-Denis Diderot Medical School, Paris, France.
Source
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Subject
Language
English
Abstract
Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. Two varieties exist: isodicentric chromosome 9p (i(9p)), where the two 9p arms are linked by a single centromeric region, and pseudodicentric 9p (idic(9p)), where one active and one inactive centromere are linked together by a proximal segment of 9q that may incorporate euchromatic material. In living patients, i(9p) and idic(9p) are usually present in a mosaic state. Fifty-four cases, including fetuses, have been reported, of which only two have been molecularly characterized using array-CGH. Tetrasomy 9p leads to a variable phenotype ranging from multiple congenital anomalies with severe intellectual disability and growth delay to subnormal cognitive and physical developments. Hypertelorism, abnormal ears, microretrognathia and bulbous nose are the most common dysmorphic traits. Microcephaly, growth retardation, joint dislocation, scoliosis, cardiac and renal anomalies were reported in several cases. Those physical anomalies are often, but not universally, accompanied by intellectual disability. The most recurrent breakpoints, defined by conventional cytogenetics, are 9p10, 9q12 and 9q13. We report on 12 new patients with tetrasomy 9p (3 i(9p), 8 idic(9p) and one structurally uncharacterized), including the first case of parental germline mosaicism. All rearrangements have been characterized by DNA microarray. Based on our results and a review of the literature, we further delineate the prenatal and postnatal clinical spectrum of this imbalance. Our results show poor genotype-phenotype correlations and underline the need of precise molecular characterization of the supernumerary marker.
(© 2015 Wiley Periodicals, Inc.)
(© 2015 Wiley Periodicals, Inc.)