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Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis
- Source :
- Journal of Medical Genetics. 30:783-784
- Publication Year :
- 1993
- Publisher :
- BMJ, 1993.
-
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.
- Subjects :
- Male
medicine.medical_specialty
Pathology
Amniotic fluid
Aneuploidy
Fibroblast cultures
Trisomy
Biology
Genetics
medicine
Humans
Child
Genetics (clinical)
Chromosome 7 (human)
medicine.diagnostic_test
Mosaicism
Cytogenetics
Fibroblasts
medicine.disease
Hypomelanosis ito
Amniocentesis
Pigmentation Disorders
Chromosomes, Human, Pair 7
Research Article
Subjects
Details
- ISSN :
- 14686244
- Volume :
- 30
- Database :
- OpenAIRE
- Journal :
- Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....e4b559609378cf43f71e4b3f023fbf22
- Full Text :
- https://doi.org/10.1136/jmg.30.9.783