Int22h-1/int22h-2-mediated Xq28 rearrangements: Intellectual disability associated with duplications and in utero male lethality with deletions

Journal of Medical Genetics

Volumn 48, Issue 12, 2011, Pages 840-850

  El Hattab, Ayman W ^a   Fang, Ping ^b   Jin, Weihong ^b   Hughes, Jeffrey R ^b   Gibson, James B ^c   Patel, Gayle S ^c   Grange, Dorothy K ^d   Manwaring, Linda P ^d   Patel, Ankita ^b   Stankiewicz, Pawel ^b   Cheung, Sau Wai ^b  

^a UNIVERSITY OF MISSOURI   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Clinical Genetics   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; OLIGONUCLEOTIDE;

AGGRESSION; ARTICLE; CHILD; CHROMOSOME DELETION X; CHROMOSOME DUPLICATION; CHROMOSOME XQ; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; COMPARATIVE GENOMIC HYBRIDIZATION; EYELID; FEMALE; FETUS DEATH; FLUORESCENCE IN SITU HYBRIDIZATION; FOREHEAD; GENE DOSAGE; GENOME ANALYSIS; HEMOPHILIA A; HUMAN; HYPERACTIVITY; INTELLECTUAL IMPAIRMENT; INTRON; LIP; MALE; MICROARRAY ANALYSIS; NOSE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPONTANEOUS ABORTION; X CHROMOSOMAL INHERITANCE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER; X CHROMOSOME LINKED INTELLECTUAL DISABILITY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTATIONAL BIOLOGY; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENOME, HUMAN; HEMOPHILIA A; HOMOLOGOUS RECOMBINATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; PEDIGREE; PHENOTYPE; SEGMENTAL DUPLICATIONS, GENOMIC; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOME DISORDERS; X CHROMOSOME INACTIVATION;

EID: 84856024149     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100125     Document Type: Article

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