Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

American Journal of Medical Genetics, Part A

Volumn 143, Issue 12, 2007, Pages 1358-1365

  Probst, Frank J ^a   Roeder, Elizabeth R ^b   Enciso, Victoria B ^b   Ou, Zhishuo ^a   Cooper, M Lance ^a   Eng, Patricia ^a   Li, Jiangzhen ^c   Gu, Yanghong ^a   Stratton, Robert F ^b   Chinault, A Craig ^a   Shaw, Chad A ^a   Sutton, V Reid ^a   Sau, Wai Cheung ^a   Nelson, David L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^c Opexa Therapeutics ^*  (United States)

Author keywords

Chromosome deletion; Fragile X syndrome; Microarray analysis; Mucopolysaccharidosis II; X chromosome

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN 2; IDURONATE 2 SULFATASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION X; CHROMOSOME INACTIVATION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; ENZYME ACTIVITY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENE LOSS; GENETIC DISORDER; HUMAN; HUNTER SYNDROME; LEUKOCYTE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; OBESITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; GLYCOPROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; TRANS-ACTIVATORS; X CHROMOSOME INACTIVATION;

EID: 34249881332     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31781     Document Type: Article

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