De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23)

American Journal of Medical Genetics, Part A

Volumn 146, Issue 15, 2008, Pages 1986-1993

  Jiang, Yong Hui ^a   Martinez, Jose E ^b   Ou, Zhishuo ^a   Cooper, M Lance ^a   Kang, Sung Hae L ^a   Pursley, Amber ^a   Cheung, Sau W ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF SOUTH ALABAMA   (United States)

Author keywords

Array CGH; Chromosomal microdeletion; Developmental delay; Paracentric inversion

Indexed keywords

CHORIONIC GONADOTROPIN;

ARTICLE; CASE REPORT; CHROMOSOME 14; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DNA MICROARRAY; ECHOCARDIOGRAPHY; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; MICROARRAY ANALYSIS; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PALATOPHARYNGEAL INCOMPETENCE; PARACENTRIC CHROMOSOME INVERSION; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RENOGRAPHY; BACTERIAL ARTIFICIAL CHROMOSOME; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME INVERSION; DEVELOPMENTAL DISORDER; GENETICS; GENOME; KARYOTYPING; MULTIPLE MALFORMATION SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 14; DEVELOPMENTAL DISABILITIES; FEMALE; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; MUSCLE HYPOTONIA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE;

EID: 49649093728     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32408     Document Type: Article

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