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Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3)

✍ Scribed by Ishikiriyama, Satoshi ;Tonoki, Hidefumi ;Shibuya, Yoshitaka ;Chin, Shinki ;Harada, Naoki ;Abe, Kyohko ;Niikawa, Norio


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
259 KB
Volume
33
Category
Article
ISSN
0148-7299

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Myelomeningocele and Waardenburg syndrom
✍ Nye, Jeffrey S.; Balkin, Nancy; Lucas, Heather; Knepper, Paul A.; McLone, David πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 47 KB

From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc