We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defin
Proximal interstitial 6q deletion: A recognizable syndrome
β Scribed by Kumar, Rajesh; Riordan, Diane; Dawson, Angelika J.; Chudley, Albert E.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 35 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970822)71:3<353::aid-ajmg18>3.0.co;2-j
No coin nor oath required. For personal study only.
β¦ Synopsis
We report on an 8-year-old boy with a proximal interstitial deletion of the long arm of chromosome 6 with breakpoints q13 to q14.2. He has a characteristic facial appearance that is seen in several of the previously described cases. Details of his clinical course are reviewed and compared with the nine previous reported cases of the proximal deletion 6q syndrome. Am.
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