Two cases of X/autosome translocation in females with incontinentia pigmenti
- 1 November 1985
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 71 (3) , 231-234
- https://doi.org/10.1007/bf00284581
Abstract
We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these two girls with translocations involving similar breakpoints on the X chromosome suggests that this band may be the site of the IP gene locus.Keywords
This publication has 34 references indexed in Scilit:
- Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation modelClinical Genetics, 2008
- Aarskog syndrome: Full male and female expression associated with an X‐autosome translocationAmerican Journal of Medical Genetics, 1984
- Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.Archives of Disease in Childhood, 1983
- The half chromatid mutation model and bidrectional mutation in incontinentia pigmentiClinical Genetics, 1983
- Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophyNature, 1982
- Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.Journal of Medical Genetics, 1981
- Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.Journal of Medical Genetics, 1979
- A Chromosomal Break and Partial Delection of a Number 9 ChromosomeHuman Heredity, 1973
- Incontinentia pigmenti achromians(ITO)Dermatology, 1971
- THE BLOCH-SULZBERGER SYNDROME (INCONTINENTIA PIGMENTI)British Journal of Dermatology, 1952