X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: Evidence for functional disomy of Xp

Journal of Medical Genetics

Volumn 33, Issue 3, 1996, Pages 216-220

  Hatchwell, Eli ^a   Robinson, David ^b   Crolla, John A ^b   Cockwell, Annette E ^b  

^a PRINCESS ANNE HOSPITAL   (United Kingdom)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

Functional disomy Xp; Hypomelanosis of Ito; Incontinentia pigmenti; X; autosome translocation

Indexed keywords

ADULT; ARTICLE; BLOOD CELL; CASE REPORT; CELL CULTURE; CENTROMERE; CHROMOSOME 17; CHROMOSOME 17P; CHROMOSOME BREAKAGE; CHROMOSOME INACTIVATION; CHROMOSOME TRANSLOCATION X; DISOMY; DNA DETERMINATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HUMAN; HUMAN CELL; INCONTINENTIA PIGMENTI; MONOSOMY; PHENOTYPE; PRIORITY JOURNAL; SKIN CELL; SKIN PIGMENTATION; X CHROMOSOME; X CHROMOSOME INACTIVATION;

EID: 0029995003     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.3.216     Document Type: Article

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