A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndrome

American Journal of Medical Genetics

Volumn 134 A, Issue 4, 2005, Pages 434-438

  Ounap, Katrin ^a,b   Ilus, Tiiu ^a   Bartsch, Oliver ^c,d  

^a TARTU UNIVERSITY CLINICS   (Estonia)

^b UNIVERSITY OF TARTU   (Estonia)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Brachmann de Lange syndrome; Duplication 3q syndrome; Triplication 3q25.3 q29

Indexed keywords

ARTICLE; CASE REPORT; CAUSE OF DEATH; CDL1 GENE; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CONGENITAL MALFORMATION; DE LANGE SYNDROME; DIFFERENTIAL DIAGNOSIS; DUPLICATION 3Q SYNDROME; FACIES; FEMALE; GENE; HUMAN; NEWBORN; PHENOTYPE; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; FACE; FATAL OUTCOME; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; INVERSION, CHROMOSOME; KARYOTYPING; LIMB DEFORMITIES, CONGENITAL; SYNDROME; TRISOMY;

EID: 18044366412     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30134     Document Type: Article

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