22q11.2 distal deletion syndrome: Description of a new case with truncus arteriosus type 2 and review

Molecular Syndromology

Volumn 2, Issue 1, 2011, Pages 35-44

  Garavelli, L ^a   Rosato, S ^a   Wischmeijer, A ^a,b   Gelmini, C ^a   Esposito, A ^a   Mazzanti, L ^c   Franchi, F ^a   De Crescenzo, A ^d   Palumbo, O ^e   Carella, M ^e   Riccio, A ^d,f  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b Policlinico Sant'Orsola Malpighi ^*  (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

^e CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^f INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

22q11.2 distal deletion syndrome; Pre and post natal growth retardation; TBX1; Truncus arteriosus

Indexed keywords

BREAKPOINT CLUSTER REGION PROTEIN; DNA; GROWTH HORMONE;

22Q11.2 DISTAL DELETION SYNDROME; CASE REPORT; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q11; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART DISEASE; COPY NUMBER VARIATION; DIFFERENTIAL DIAGNOSIS; DNA METHYLATION; FEMALE; GENETIC ASSOCIATION; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; HYPOTHYROIDISM; KARYOTYPE; MENTAL DETERIORATION; MICROCEPHALY; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; REVIEW; SEGMENTAL DUPLICATION; SILVER RUSSELL SYNDROME; SPEECH DISORDER; TRUNCUS ARTERIOSUS TYPE 2;

EID: 83055163323     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000334262     Document Type: Review

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