Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: New cases and literature review

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  El Hattab, Ayman W ^a,b   Schaaf, Christian P ^a,c   Fang, Ping ^a   Roeder, Elizabeth ^a   Kimonis, Virginia E ^d   Church, Joseph A ^e   Patel, Ankita ^a   Cheung, Sau Wai ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TAWAM HOSPITAL   (United Arab Emirates)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

Chromosomal microarray analysis; Chromosomal rearrangements; X linked intellectual disability

Indexed keywords

ANDROGEN RECEPTOR; FRAGILE X MENTAL RETARDATION PROTEIN;

ADOLESCENT; ADULT; AGGRESSION; ARTICLE; ATTENTION DEFICIT DISORDER; BECKWITH WIEDEMANN SYNDROME; BIPOLAR DISORDER; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME XQ; CHROMOSOME XQ28 DUPLICATION; CLINICAL ARTICLE; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; DISRUPTIVE BEHAVIOR; DYSLEXIA; ESOPHAGUS ATRESIA; FACIES; FEMALE; HOMOLOGOUS RECOMBINATION; HUMAN; INFANT; INTRON 22 HOMOLOGOUS REGION 1; INTRON 22 HOMOLOGOUS REGION 2; KYPHOSIS; LARGE EAR; LEARNING DISORDER; MALE; OBESITY; PHIMOSIS; RETROGNATHIA; SCHOOL CHILD; TALL STATURE; TRACHEOESOPHAGEAL FISTULA; X CHROMOSOME INACTIVATION; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME DISORDER; GENETICS; INTRON; MIDDLE AGED; PEDIGREE; PRESCHOOL CHILD; X CHROMOSOME; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; INFANT; INTRONS; MALE; MIDDLE AGED; PEDIGREE; SEX CHROMOSOME DISORDERS; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 84925880339     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0157-2     Document Type: Article

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