18q22.3 → 18q23 deletion syndrome and cleft palate
✍ Scribed by James D. Eudy; Diane L. Pickering; Richard Lutz; Kristal Platt; Bhavana J. Dave; Ann Haskins Olney; Warren G. Sanger
- Book ID
- 101447757
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 123 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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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
We report on 2 patients with de novo proximal interstitial deletions of the long arm of chromosome 4: in one the deletion resulted in monosomy (4)(q21.3q23), in the other it produced monosomy (4)(q13.2q23). Review of 9 cases of deletions involving the 4q21/ 4q22 region reported previously detected a