"De novo" duplication Xq23→Xq26 of paternal origin in a girl with a mildly affected phenotype

American Journal of Medical Genetics

Volumn 70, Issue 4, 1997, Pages 404-408

  Garcia Heras, Jaime ^a,e   Martin, Judith A ^b   Day, Donald W ^c   Scacheri, Peter ^d   Witchel, Selma F ^d  

^a TEXAS DEPARTMENT OF STATE HEALTH SERVICES   (United States)

^b East Tennessee State University   (United States)

^c MEDICAL CITY DALLAS HOSPITAL   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^e Genetic Testing Center   (United States)

Author keywords

Androgen receptor locus assay (HAR); Duplication Xq; Paternal origin; X inactivation

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME XQ; DEVELOPMENTAL DISORDER; FEMALE; GENE DUPLICATION; GENE LOCUS; GENETIC COUNSELING; GROWTH RETARDATION; HUMAN; METHYLATION; PHENOTYPE; PRIORITY JOURNAL; SYNDROME; X CHROMOSOME INACTIVATION;

ABNORMALITIES; ALLELES; BROMODEOXYURIDINE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DOSAGE COMPENSATION, GENETIC; FATHERS; FEMALE; GROWTH DISORDERS; HUMANS; MULTIGENE FAMILY; PHENOTYPE; RECEPTORS, ANDROGEN; X CHROMOSOME;

EID: 0030913426     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970627)70:4<404::aid-ajmg13>3.0.co;2-l     Document Type: Article

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