Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: Case report

Molecular Cytogenetics

Volumn 5, Issue 1, 2012, Pages

  Mulatinho, Milene Vianna ^a   De Carvalho Serao, Cassio Luiz ^b   Scalco, Fernanda ^c   Hardekopf, David ^d   Pekova, Sona ^d   Mrasek, Kristin ^e   Liehr, Thomas ^e   Weise, Anja ^e   Rao, Nagesh ^f   Llerena, Juan Clinton ^a  

^a INSTITUTO OSWALDO CRUZ   (Brazil)

^b UNIVERSIDADE DO ESTADO DO RIO DE JANEIRO   (Brazil)

^c FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^d SYNLAB ACADEMY   (Germany)

^e JENA UNIVERSITY HOSPITAL   (Germany)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

2q22 deletion syndrome; Array comparative genomic hybridization (aCGH); Birth defects; Essential hypertension; Fluorescence in situ hybridization (FISH); High blood pressure; Hypospadia; omphalocele; Severe mental retardation

Indexed keywords

CAPTOPRIL; NEUROLEPTIC AGENT; OLIGONUCLEOTIDE; TRIACYLGLYCEROL;

ADULT; ANGER; ARTICLE; AUTISM; BEHAVIOR DISORDER; BLOOD ANALYSIS; BODY MASS; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME FRAGILE SITE; CHROMOSOME INVERSION; CLINICAL EVALUATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HAPLOIDY; HUMAN; HUMAN TISSUE; HYPERTENSION; HYPOSPADIAS; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPING; MALE; MENTAL DEFICIENCY; METAPHASE CHROMOSOME; MICROARRAY ANALYSIS; MOTOR DYSFUNCTION; NUCLEOTIDE SEQUENCE; OMPHALOCELE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCOLIOSIS; SPEECH DISORDER; TRIACYLGLYCEROL BLOOD LEVEL;

EID: 84861963120     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-5-30     Document Type: Article

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