Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

American Journal of Medical Genetics

Volumn 138 A, Issue 1, 2005, Pages 11-17

  Stankiewicz, Paweł ^a   Thiele, Hannelore ^b   Schlicker, Mike ^b   Cseke Friedrich, Andrea ^c   Bartel Friedrich, Sylva ^d   Yatsenko, Svetlana A ^a   Lupski, James R ^a,e   Hansmann, Ingo ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Institut fur Humangenetik und Medizinische Biologie   (Germany)

^c MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

^d Unwersitatsklinik und Poliklinik fur Hals Nasen Ohrenheilkunde Kopf und Halschirurgie   (Germany)

^e TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

SOX3 gene; Speech delay; X inactivation; Xq duplication in female

Indexed keywords

ANDROGEN RECEPTOR; GONADOTROPIN; SOMATOMEDIN C; STEROID;

ADULT; ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CYTOGENETICS; DNA METHYLATION; DYSLALIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DISRUPTION; GENE DUPLICATION; GENE INACTIVATION; GENETIC ANALYSIS; GIRL; HETEROZYGOTE; HUMAN; HUMARA GENE METHYLATION ASSAY; HYPOPITUITARISM; KARYOTYPING; LORDOSIS; MALE; MENARCHE; MOTHER; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; SHORT STATURE; SIBLING; SOX3 GENE; SPEECH DISORDER; STUTTERING;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, X; DNA-BINDING PROTEINS; FEMALE; GENE DUPLICATION; GROWTH DISORDERS; HIGH MOBILITY GROUP PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INSULIN-LIKE GROWTH FACTOR I; KARYOTYPING; MALE; MOTHERS; PEDIGREE; RECEPTORS, ANDROGEN; SEX CHROMOSOME ABERRATIONS; SPEECH DISORDERS; TRANSCRIPTION FACTORS;

EID: 24344475134     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30910     Document Type: Article

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