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Periodic alternating nystagmus in two children with a similar, unusual phenotype

✍ Scribed by Christophe Valmaggia; Irene Gottlob


Book ID
117590799
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
522 KB
Volume
23
Category
Article
ISSN
0887-8994

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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