Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X

American Journal of Medical Genetics

Volumn 120 A, Issue 4, 2003, Pages 557-561

  Ida, Tomoko ^a   Miharu, Norio ^b   Havashitani, Michiko ^c   Shimokawa, Osamu ^a   Harada, Naoki ^a,d,e   Samura, Osamu ^b   Kubota, Takeo ^f   Niikawa, Norio ^d,e   Matsumoto, Naomichi ^d,e  

^a Kyushu Medical Science Nagasaki Laboratory   (Japan)

^b HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

^c Hiroshima Municipital Hospital   (Japan)

^d NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^f NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Functional disomy; Growth retardation; Mental retardation; Pelizaeus Merzbacher disease; PLP1 gene; X inactivation; Xq22 q23 region

Indexed keywords

GENOMIC DNA; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHROMOSOME XQ; CYTOGENETICS; DEVELOPMENTAL DISORDER; DISOMY; DNA SEQUENCE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DUPLICATION; GENE EXPRESSION; GROWTH DISORDER; HUMAN; HUMAN CELL; KARYOTYPE; LYMPHOCYTE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; PELIZAEUS MERZBACHER DISEASE; PLP1 GENE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

EID: 0041823282     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20096     Document Type: Article

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