Distal Xq duplication and functional Xq disomy

Orphanet Journal of Rare Diseases

Volumn 4, Issue 1, 2009, Pages

  Sanlaville, Damien ^a,b   Schluth Bolard, Caroline ^a,b   Turleau, Catherine ^c  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ LYON 1   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; ANTICONVULSIVE AGENT; DNA; METHYL CPG BINDING PROTEIN 2; PROTEOLIPID PROTEIN;

ALPHA THALASSEMIA; ANTERIOR FONTANEL; ARTICLE; ATTENTION; AUTOSOME; CASE REPORT; CHEEK; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CHROMOSOME DUPLICATION; CHROMOSOME XQ; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOGENETICS; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISOMY; EAR MALFORMATION; EDUCATION; EPICANTHUS; FACE MALFORMATION; FACIES; FEEDING DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENDER; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENE REARRANGEMENT; GENE TRANSLOCATION; GENETIC COUNSELING; GENITAL SYSTEM; HUMAN; INFECTION; KARYOTYPE; LARGE EAR; MALE; MALNUTRITION; MENTAL DEFICIENCY; METHODOLOGY; MOUTH; MUSCLE HYPOTONIA; NOMENCLATURE; NONHUMAN; NOSE; PALATE; PALATE MALFORMATION; PARENT; PHENOTYPE; PRADER WILLI SYNDROME; PRENATAL DIAGNOSIS; PREVALENCE; PROGNOSIS; QUANTITATIVE ANALYSIS; RECURRENCE RISK; RECURRENT DISEASE; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; RING CHROMOSOME; RISK ASSESSMENT; SEIZURE; SUTURE; UROGENITAL TRACT DISEASE; X CHROMOSOME; X CHROMOSOME INACTIVATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; FACE; GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; REVIEW; SEX CHROMOSOME ABERRATION;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; FACE; FEMALE; GENE DUPLICATION; HUMANS; MALE; METHYL-CPG-BINDING PROTEIN 2; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOME DISORDERS;

EID: 61849170131     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-4-4     Document Type: Article

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