De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype

American Journal of Medical Genetics

Volumn 116, Issue 1, 2003, Pages 71-76

  Armstrong, Linlea ^a   McGowan Jordan, Jean ^a   Brierley, Kathleen ^a   Allanson, Judith E ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

Asymmetry; Developmental delay; Functional disomy; Gonadal dysgenesis; Malformations; Short stature; Turner syndrome; X chromosome abnormalities; Xq duplication

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME XQ; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISOMY; FEMALE; GENE INACTIVATION; GENETIC VARIABILITY; GONADAL DYSGENESIS; HUMAN; INTRAUTERINE GROWTH RETARDATION; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; TURNER SYNDROME;

LABIA;

EID: 0037214366     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10727     Document Type: Article

References (22)

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