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

Gene

Volumn 536, Issue 2, 2014, Pages 441-443

  Papoulidis, I ^a   Papageorgiou, E ^a   Siomou, E ^a   Oikonomidou, E ^a   Thomaidis, L ^b   Vetro, A ^c   Zuffardi, O ^d   Liehr, T ^e   Manolakos, E ^a   Vassilis, Papadopoulos ^f  

^a Eurogenetica SA   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e Inst of Hum Genet/Anthropology   (Germany)

^f UNIVERSITY OF PATRAS   (Greece)

Author keywords

Array comparative genome hybridization (aCGH); Chromosome 21; Down syndrome; Partial trisomy 21q; Phenotype

Indexed keywords

ADULT; AGGRESSION; ANXIETY DISORDER; ARTICLE; ATTENTION DISTURBANCE; BIRTH WEIGHT; BODY HEIGHT; BODY WEIGHT; BORDERLINE STATE; CASE REPORT; CHROMOSOME 21; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME DUPLICATION; CLINICAL EXAMINATION; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; CORNEA TRANSPLANTATION; CYTOGENETICS; DELINQUENCY; DEPRESSION; DNA MICROARRAY; DOWN SYNDROME; EPICANTHUS; FAMILY HISTORY; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; HEAD CIRCUMFERENCE; HEART AUSCULTATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KERATOCONUS; MACROGLOSSIA; MALE; MAXILLA HYPOPLASIA; MENTAL CAPACITY; METATARSAL BONE; MICROCEPHALY; MICROGNATHIA; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; OBSESSION; PARTIAL TRISOMY; PARTIAL TRISOMY 21; PARTIAL TRISOMY 7Q; PHENOTYPE; PREGNANCY; PRIORITY JOURNAL; PROMINENT EAR; RURAL AREA; SHORT STATURE; SOCIAL PHOBIA; SOCIAL PROBLEM; SPECIAL EDUCATION; SYSTOLIC HEART MURMUR; WECHSLER INTELLIGENCE SCALE;

AMYLOID BETA (A4) PRECURSOR PROTEIN; APP; ARRAY COMPARATIVE GENOME HYBRIDIZATION (ACGH); CHROMOSOME 21; CONDENSIN-2 COMPLEX SUBUNIT G2; DNAJ/HSP40 HOMOLOG SUBFAMILY B MEMBER 6; DNAJB6; DOWN SYNDROME; DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1; DUAL-SPECIFITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1; DUAL-SPECIFITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1; DYRK1A; MX1; MYXOVIRUS RESISTANCE 1, MOUSE, HOMOLOG OF; NCAPG2; OMIM; ONLINE MENDELIAN INHERITANCE IN MAN; PARTIAL TRISOMY 21Q; PHENOTYPE; PTPRN2; TYROSINE-PROTEIN PHOSPHATASE NON-RECEPTOR TYPE 2; UBE3C; UBIQUITIN PROTEIN LIGASE E3C; VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 2; VIPR2; WD REPEAT-CONTAINING PROTEIN 60; WDR60;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 84892434222     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.11.078     Document Type: Article

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