Molecular Cytogenetic Characterization of an 8p22-8p23.2 Duplication Derived From a Maternal Intrachromosomal Insertion in a Child With Congenital Heart Malformation, Delayed Puberty, and Learning Disabilities
- Author
- BASINKO, Audrey1 2 ; DOUET-GUILBERT, Nathalie1 2 ; LE BRIS, Marie-Josée2 ; PARENT, Philippe3 ; ANSQUER, Hélène3 ; MOREL, Frédéric1 2 ; DE BRAEKELEER, Marc1 2
[1] Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France
[2] Service de Cytogénétique, Cytologie et Biologie de la Reproduction, Hôpital Morvan, CHU Brest, Brest, France
[3] Département de Pédiatrie et de Génétique Médicale, Hôpital Morvan, CHU Brest, Brest, France - Source
American journal of medical genetics. Part A. 2008, Vol 146, Num 22, pp 2950-2954, 5 p ; ref : 3/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractérisation Carte génétique Coeur Congénital Cytogénétique Duplication chromosomique Enfant Insertion Malformation Mère Retard pubertaire Trouble de l'apprentissage Aberration chromosomique Chromosome anormal Endocrinopathie Homme
- Keyword (en)
- Characterization Genetic mapping Heart Congenital Cytogenetics Chromosome duplication Child Insertion Malformation Mother Delayed puberty Learning disability Chromosomal aberration Abnormal chromosome Endocrinopathy Human
- Keyword (es)
- Caracterización Mapa genético Corazón Congénito Citogenética Duplicación cromosómica Niño Inserción Malformación Madre Retardo pubertad Trastorno aprendizaje Aberración cromosómica Cromosoma anormal Endocrinopatía Hombre
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20H Puberal and climacteric disorders (male and female)
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Gynecology. Andrology. Obstetrics Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20797307
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.32522 
https://dx.doi.org/10.1002/ajmg.a.32522
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