Phenotype in X chromosome rearrangements: pitfalls of X inactivation study

Pathologie Biologie

Volumn 55, Issue 1, 2007, Pages 29-36

  Schluth, C ^a   Cossee M ^b   Girard Lemaire, F ^a   Carelle, N ^a   Dollfus, H ^a   Jeandidier, E ^c   Flori, E ^a  

^a HÔPITAL DE HAUTEPIERRE   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c Hôpitaux Universitaires de Strasbourg   (France)

Author keywords

MLS syndrome; X chromosome structural anomalies; X inactivation; XX maleness

Indexed keywords

ADULT; ARTICLE; AUTISM; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME REPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; DIAGNOSTIC VALUE; FACE DYSMORPHIA; FEMALE; FETUS; GENE DISRUPTION; GENE LOCATION; GENE REARRANGEMENT; GENETIC CORRELATION; HUMAN; KARYOTYPE 46,XX; MALE; MENTAL DEFICIENCY; METHYLATION; MICROPHTHALMIA; NEWBORN; PHENOTYPE; PRENATAL PERIOD; PROGNOSIS; SAMPLE SIZE; SCHIZOPHRENIA; SKIN DEFECT; X CHROMOSOME; X CHROMOSOME ABERRATION; X CHROMOSOME INACTIVATION; CASE REPORT; DNA METHYLATION; DNA REPLICATION TIMING; DWARFISM; GENE TRANSLOCATION; GENETICS; MULTIPLE MALFORMATION SYNDROME; PRENATAL DEVELOPMENT; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; TURNER SYNDROME; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKED DISORDER; X LINKED MENTAL RETARDATION;

ANDROGEN RECEPTOR; AR PROTEIN, HUMAN; FMR1 PROTEIN, HUMAN; FRAGILE X MENTAL RETARDATION PROTEIN; UNCLASSIFIED DRUG;

ABNORMALITIES, MULTIPLE; ADULT; AUTISTIC DISORDER; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; DNA METHYLATION; DNA REPLICATION TIMING; DWARFISM; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION, X-LINKED; PHENOTYPE; PRENATAL DIAGNOSIS; RECEPTORS, ANDROGEN; SCHIZOPHRENIA; TRANSLOCATION, GENETIC; TURNER SYNDROME; X CHROMOSOME INACTIVATION;

EID: 33846783183     PISSN: 03698114     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.patbio.2006.04.003     Document Type: Article

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