Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis.
Open Access
- 1 September 1993
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (9) , 783-784
- https://doi.org/10.1136/jmg.30.9.783
Abstract
We describe a patient with hypomelanosis of Ito (HI) and typical characteristics. Cytogenetic analysis of fibroblast cultures showed mosaicism for trisomy 7. The trisomy cell line was first observed in an amniotic fluid culture and illustrates the problem of distinguishing pseudomosaicism from true mosaicism.Keywords
This publication has 5 references indexed in Scilit:
- Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.Journal of Medical Genetics, 1988
- Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1Human Genetics, 1986
- Lyonization and the lines of BlaschkoHuman Genetics, 1985
- United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosisPrenatal Diagnosis, 1984
- Hypomelanosis of Ito (incontinentia pigmenti achromians)—a clinicopathologic studyNeurology, 1982