Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: Physical and transcriptional mapping of their common breakpoint region in Xq13.1

Journal of Medical Genetics

Volumn 36, Issue 10, 1999, Pages 754-758

  Villard, Laurent ^a   Briault, Sylvain ^b   Lossi, Anne Marie ^a   Paringaux, Christine ^b   Belougne, Jérôme ^a   Colleaux, Laurence ^a   Pincus, D R ^c   Woollatt, E ^d   Lespinasse, James ^e   Munnich, Arnold ^f   Moraine, Claude ^b   Fontès, Michel ^a   Gecz, Jozef ^d,g  

^a INSERM   (France)

^b CHU BRETONNEAU   (France)

^c Allamanda Medical Centre   (Australia)

^d WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^e CENTRE HOSPITALIER DE CHAMBÉRY   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Inverted X chromosome; MRX; Non specific X linked mental retardation; XLMR

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME XQ; COSMID; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INTELLECT; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; PARACENTRIC CHROMOSOME INVERSION; PERICENTRIC CHROMOSOME INVERSION; PRIORITY JOURNAL; RESTRICTION MAPPING; SCHOOL CHILD; X CHROMOSOME; YEAST ARTIFICIAL CHROMOSOME;

EID: 0032824597     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.36.10.754     Document Type: Article

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