Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies

American Journal of Medical Genetics

Volumn 46, Issue 2, 1993, Pages 159-164

  Aughton, D J ^a   AlSaadi, A A ^a   Johnson, J A ^a   Transue, D J ^a   Trock, G L ^a  

^a WILLIAM BEAUMONT HOSPITAL   (United States)

Author keywords

chromosome aberrations (duplications); human; multiple congenital abnormalities; X chromosome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME XQ; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FEMALE; GENE EXPRESSION; GROWTH RETARDATION; HUMAN; MICROCEPHALY; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RECESSIVE GENE; SEIZURE; X CHROMOSOME INACTIVATION;

EID: 0027516565     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1320460212     Document Type: Article

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