Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

American Journal of Medical Genetics

Volumn 140 A, Issue 5, 2006, Pages 496-502

  Tzschach, Andreas ^a   Krause Plonka, Ines ^b   Menzel, Corinna ^a   Kalscheuer, Vera ^a   Toennies, Holger ^c   Scherthan, Harry ^a   Knoblauch, Andreas ^d   Radke, Michael ^b   Ropers, Hans Hilger ^a   Hoeltzenbein, Maria ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b KLINIKUM ERNST VON BERGMANN   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d Praxis für Kinderheilkunde   (Germany)

Author keywords

Chromosome 5; Congenital contractural arachnodactyly; Dysmorphic features; Interstitial deletion; Mental retardation; Molecular cytogenetic investigations

Indexed keywords

ANTEVERTED NOSTRIL; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL FEATURE; EAR DYSPLASIA; FACE DYSMORPHIA; FAILURE TO THRIVE; FLUORESCENCE IN SITU HYBRIDIZATION; HIGH ARCHED PALATE; HUMAN; HYPERTELORISM; MALE; MICROGNATHIA; MUSCLE HYPOTONIA; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETROGNATHIA;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; DEVELOPMENTAL DISABILITIES; EAR; FACE; FAILURE TO THRIVE; FEEDING AND EATING DISORDERS OF CHILDHOOD; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PHENOTYPE;

GNATHIA;

EID: 33644856869     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31105     Document Type: Article

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