9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features

European Journal of Medical Genetics

Volumn 54, Issue 5, 2011, Pages

  Sismani, Carolina ^a   Anastasiadou, Violetta ^a,b   Kousoulidou, Ludmila ^a   Parkel, Sven ^c   Koumbaris, George ^a   Žilina, Olga ^c   Bashiardes, Stavros ^a   Spanou, Elena ^a,b   Kurg, Ants ^c   Patsalis, Philippos C ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b Archbishop Makarios III Hospital   (Cyprus)

^c Inst Molec Cell Biol Tartu U   (Estonia)

Author keywords

Array CGH; Array MAPH; Chromosome X exon specific oligonucleotide array; Developmental delay; Mild dysmorphic facial features; X linked mental retardation; Xp22.2 22.13 familial duplication

Indexed keywords

ADULT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CARDIOVASCULAR DISEASE; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CHROMOSOME XP; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FAMILY STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROZYGOTE; HUMAN; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MOLECULAR CLONING; MUSCLE HYPOTONIA; SCOLIOSIS; X CHROMOSOME LINKED DISORDER; ADOLESCENT; CASE REPORT; CHILD; CHROMOSOME BANDING PATTERN; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FATALITY; GENETICS; PEDIGREE; PHENOTYPE; X CHROMOSOME; X LINKED MENTAL RETARDATION;

BACTERIA (MICROORGANISMS);

ADOLESCENT; ADULT; CARDIOVASCULAR DISEASES; CHILD; CHROMOSOME BANDING; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FACIES; FATAL OUTCOME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION, X-LINKED; MUSCLE HYPOTONIA; PEDIGREE; PHENOTYPE; SCOLIOSIS; YOUNG ADULT;

EID: 79961126339     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.05.006     Document Type: Article

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