A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

Papoulidis, I; Papageorgiou, E; Siomou, E; Oikonomidou, E; Thomaidis, L; Vetro, A; Zuffardi, O; Liehr, T; Manolakos, E; Vassilis, Papadopoulos

Papoulidis, I; Papageorgiou, E; Siomou, E; Oikonomidou, E; Thomaidis, L; Vetro, A; Zuffardi, O; Liehr, T; Manolakos, E; Vassilis, Papadopoulos.

Afiliación

Papoulidis I; Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece.
Papageorgiou E; Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece.
Siomou E; Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece.
Oikonomidou E; Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece.
Thomaidis L; Aghia Sophia Children's Hospital, Athens, Greece.
Vetro A; Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Zuffardi O; Dept. of Molecular Medicine, University of Pavia, Italy.
Liehr T; Institute of Human Genetics, Jena, Germany.. Electronic address: i8lith@mti.uni-jena.de.
Manolakos E; Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece.
Vassilis P; University of Patras, Medical School, Greece.

Gene ; 536(2): 441-3, 2014 Feb 25.

Article en En | MEDLINE | ID: mdl-24334122

Asunto(s)

Deleción Cromosómica; Cromosomas Humanos Par 21/genética; Síndrome de Down/genética; Trisomía/genética; Adulto; Estudios de Asociación Genética/métodos; Humanos; Masculino; Translocación Genética/genética

Palabras clave

APP; Array comparative genome hybridization (aCGH); Chromosome 21; DNAJB6; DSCR1; DYRK1; DYRK1A; DnaJ/HSP40 homolog subfamily B member 6; Down syndrome; Down syndrome critical region gene 1; MX1; NCAPG2; OMIM; Online Mendelian Inheritance in Man; PTPRN2; Partial trisomy 21q; Phenotype; UBE3C; VIPR2; WD repeat-containing protein 60; WDR60; amyloid beta (A4) precursor protein; condensin-2 complex subunit G2; dual-specifity tyrosine phosphorylation-regulated kinase 1; dual-specifity tyrosine phosphorylation-regulated kinase 1A; myxovirus resistance 1, mouse, homolog of; tyrosine-protein phosphatase non-receptor type 2; ubiquitin protein ligase E3C; vasoactive intestinal peptide receptor 2

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trisomía / Cromosomas Humanos Par 21 / Deleción Cromosómica / Síndrome de Down Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Gene Año: 2014 Tipo del documento: Article País de afiliación: Grecia

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