Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome

American Journal of Medical Genetics, Part A

Volumn 140 A, Issue 7, 2006, Pages 704-708

  Wenger, Sharon L ^a,c   Grossfeld, Paul D ^b   Siu, Benjamin L ^a   Coad, James E ^a   Keller, Frank G ^a   Hummel, Marybeth ^a  

^a WEST VIRGINIA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c WEST VIRGINIA UNIVERSITY   (United States)

Author keywords

Congenital thrombocytopenia; Contiguous gene syndrome; Jacobsen syndrome; Paris Trousseau

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 11Q; CHROMOSOME DELETION; CHROMOSOME DELETION 11Q; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FLI 1 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HEART MURMUR; HUMAN; JACOBSEN SYNDROME; KARYOTYPE 46,XX; MICROARRAY ANALYSIS; PARIS TROUSSEAU SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; THROMBOCYTOPENIA; CHILD; CHROMOSOME 11; CHROMOSOME BANDING PATTERN; CRANIOFACIAL MALFORMATION; GENETICS; KARYOTYPING; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; SYNDROME;

EID: 33646917855     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31146     Document Type: Article

References (11)

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