We describe two female patients mosaic for a cell line with an extra marker X chromosome in addition to a normal 46,XX cell line. To our knowledge, these cases are the first reports of females who had a cell line with a supernumerary marker X chromosome in addition to a normal cell line. They also h
Small supernumerary ring X chromosome in a four-month-old girl
β Scribed by Huang, Bing; Lamb, Allen; Dorian, Armand; Brumblay, Janet; Powell, Berkley
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 15 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990716)85:2<191::aid-ajmg18>3.0.co;2-0
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Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these
We read with interest the review article by Dr. Crolla [1998] which stated that supernumerary marker chromosomes from all the human autosomes except chromosome 5 have been reported. We therefore describe a patient with a supernumerary ring chromosome 5. The patient, a boy, was the only child of hea