Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1779-1785

  Shimada, Shino ^a   Okamoto, Nobuhiko ^b   Hirasawa, Kyoko ^a   Yoshii, Keisuke ^a   Tani, Yumi ^a   Sugawara, Midori ^a   Shimojima, Keiko ^a   Osawa, Makiko ^a   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

Chromosomal microarray testing; Functional disomy; MECP2 duplication; X chromosome inactivation; Xq28

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ADOLESCENT; ARTICLE; BRAIN ATROPHY; BRAIN HYPOPLASIA; CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CHROMOSOME XQ; CHROMOSOME XQ28; CLINICAL FEATURE; CONSTIPATION; CONTROLLED STUDY; CORPUS CALLOSUM; DISOMY; FACE DEFORMITY; FEBRILE CONVULSION; FEMALE; FLAT NASAL BRIDGE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GROWTH RETARDATION; HUMAN; HYPERTELORISM; INTRAUTERINE GROWTH RETARDATION; MALE; MECP2 GENE; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; RECOMBINANT GENE; RESPIRATORY TRACT INFECTION; SCOLIOSIS; SEIZURE; TELOMERE; WHITE MATTER LESION; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BRAIN DISEASES; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; HUMANS; INFANT, NEWBORN; MALE; METHYL-CPG-BINDING PROTEIN 2; MUSCLE HYPOTONIA; TRANSLOCATION, GENETIC; UNIPARENTAL DISOMY; X CHROMOSOME INACTIVATION;

EID: 84879463928     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35975     Document Type: Article

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