Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

Clinical Genetics

Volumn 75, Issue 3, 2009, Pages 259-264

  Tegay, David H ^a,b   Chan, K K ^c   Leung, C ^c   Wang, C ^d   Burkett, S ^e   Stone, G ^e   Stanyon, R ^e,f   Toriello, H V ^g   Hatchwell, E ^a  

^a STONY BROOK UNIVERSITY MEDICAL CENTER   (United States)

^b NEW YORK INSTITUTE OF TECHNOLOGY   (United States)

^c KWONG WAH HOSPITAL   (Hong Kong)

^d Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

^e NATIONAL CANCER INSTITUTE   (United States)

^f UNIVERSITY OF FLORENCE   (Italy)

^g SPECTRUM HEALTH   (United States)

Author keywords

Balanced translocation; Candidate gene; Chromosome 14q22; Chromosome 2q33; SATB2; Toriello Carey syndrome

Indexed keywords

REGULATOR PROTEIN; SPECIAL AT RICH SEQUENCE BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; BODY DYSMORPHIC DISORDER; BRAIN RADIOGRAPHY; BRAIN VENTRICLE DILATATION; BRONCHOSCOPY; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME 2Q; CLINICAL FEATURE; CLINODACTYLY; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE TRANSLOCATION; HUMAN; HYPERTELORISM; LARYNGOMALACIA; MALE; MICROCEPHALY; MICROGNATHIA; NASOTRACHEAL INTUBATION; OSTEOPENIA; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SEIZURE; SLEEP APNEA SYNDROME; TORIELLO CAREY SYNDROME;

ABNORMALITIES, MULTIPLE; ACROCALLOSAL SYNDROME; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 2; CORPUS CALLOSUM; CRANIOFACIAL ABNORMALITIES; FACE; GENES, X-LINKED; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MATRIX ATTACHMENT REGION BINDING PROTEINS; MENTAL RETARDATION; SYNDROME; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 60549103558     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01145.x     Document Type: Article

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