Random X-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature

American Journal of Medical Genetics

Volumn 86, Issue 1, 1999, Pages 44-50

  Matsuo, Mari ^a   Muroya, Koji ^b   Kosaki, Kenjiro ^b   Ishii, Takashi ^c   Fukushima, Yoshimitsu ^d   Anzo, Makoto ^e   Ogata, Tsutomu ^b  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Mitsubishi Kagaku Bio Clinical Laboratories Inc   (Japan)

^d SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e Div of Endocrinology and Metabolism   (Japan)

Author keywords

Active X disomy; Developmental retardation; Functional mosaicism; Partial Xp duplication; Pigmentary dysplasia; Random X inactivation

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CHROMOSOME XP; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; INFANT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; ADULT; DOSAGE COMPENSATION, GENETIC; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; PARENTS; PHENOTYPE; SEX CHROMOSOME ABERRATIONS; X CHROMOSOME;

EID: 0032769462     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990903)86:1<44::AID-AJMG8>3.0.CO;2-Z     Document Type: Article

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