Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome

American Journal of Medical Genetics

Volumn 134 A, Issue 4, 2005, Pages 439-442

  Le Meur, Nathalie ^a   Goldenberg, Alice ^a   Michel Adde, Christine ^a   Drouin Garraud, Valérie ^a   Blaysat, Gérard ^a   Marret, Stéphane ^a   Amara, Saad Abu ^a   Moirot, Hélène ^a   Joly Hélas, Géraldine ^a   Mace, Bertrand ^a   Kleinfinger, Pascale ^b   Saugier Veber, Pascale ^a,c   Frébourg, Thierry ^a,c   Rossi, Annick ^d  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b LABORATOIRE CERBA   (France)

^c INSERM   (France)

^d ETABLISSEMENT FRANÇAIS DU SANG   (France)

Author keywords

14q interstitial deletion; Holt Oram syndrome; Molecular cytogenetics

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME 14; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME INSERTION; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; GENE; GENETIC HETEROGENEITY; GROWTH RETARDATION; HOLT ORAM SYNDROME; HUMAN; INFANT; MALE; PRIORITY JOURNAL; RADIUS APLASIA; TBX5 GENE;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; FATAL OUTCOME; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; SYNDROME;

EID: 20944442311     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30660     Document Type: Article

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