Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype

American Journal of Medical Genetics

Volumn 132 A, Issue 1, 2005, Pages 93-100

  Lichtenbelt, K D ^a   Hochstenbach, B ^a   Van Dam, W M ^a   Eleveld, M J ^a   Poot, M ^a   Beemer, F A ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Genetic counseling; LIMK1; Mosaicism; Speech retardation; STX1A; Supernumerary ring chromosome 7

Indexed keywords

ANAMNESIS; BRAIN DEVELOPMENT; CENTROMERE; CHROMOSOME 7; CLINICAL FEATURE; CYTOGENETICS; HUMAN; LANGUAGE DISABILITY; LYMPHOCYTE; MOLECULAR GENETICS; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RING CHROMOSOME; SPEECH DISORDER; SUPERNUMERARY CHROMOSOME;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; GENES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LANGUAGE DEVELOPMENT DISORDERS; MOSAICISM; PHENOTYPE; PSYCHOMOTOR DISORDERS; RING CHROMOSOMES;

EID: 11244305879     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30408     Document Type: Review

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