Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 6, 2012, Pages 1285-1291

  Sanmann, Jennifer N ^a   Bishay, Danielle L ^a   Starr, Lois J ^a   Bell, Carla A ^b   Pickering, Diane L ^a   Stevens, Jadd M ^a   Kahler, Stephen G ^b   Olney, Ann Haskins ^a   Schaefer, G Bradley ^b   Sanger, Warren G ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Duplication; Methyl CpG binding protein 2 (MECP2); Micropenis; X chromosome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; AUTOSOME; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CHROMOSOME LOSS; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENETIC GAIN; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN GENOME; INFANT; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MALE; METAPHASE; MICROPENIS; MUSCLE HYPOTONIA; PERICENTRIC CHROMOSOME INVERSION; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RECURRENT INFECTION; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; WALKING DIFFICULTY; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DEVELOPMENTAL DISABILITIES; GENE DUPLICATION; HUMANS; INTELLECTUAL DISABILITY; MALE; METHYL-CPG-BINDING PROTEIN 2; TRANSLOCATION, GENETIC;

EID: 84861222970     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35347     Document Type: Article

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