Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment

European Journal of Human Genetics

Volumn 11, Issue 1, 2003, Pages 89-92

  Anderlid, Britt Marie ^a   Schoumans, Jacqueline ^a   Hallqvist, Åsa ^a   Ståhl, Ylva ^a   Wallin, Agneta ^b   Blennow, Elisabeth ^a   Nordenskjöld, Magnus ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b ST ERIK S EYE HOSPITAL   (Sweden)

Author keywords

6p; Cryptic; Deletion; FISH; Language impairment; Subtelomeric

Indexed keywords

GENE PRODUCT; MITOGEN ACTIVATED PROTEIN KINASE; TRANSCRIPTION FACTOR;

ANTERIOR EYE SEGMENT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 6P; CHROMOSOME DELETION; COGNITION; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; EYE MALFORMATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FUNCTION; GENETIC SCREENING; HEARING LOSS; HEART ATRIUM SEPTUM DEFECT; HUMAN; LANGUAGE DISABILITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; TELOMERE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 6; DNA-BINDING PROTEINS; FACE; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LANGUAGE DISORDERS; MALE; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

BACTERIA (MICROORGANISMS);

EID: 0037262103     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200907     Document Type: Article

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