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
18q-mosaicism associated with Rett syndrome phenotype
β Scribed by Gordon, Kevin ;Siu, Victoria Mok ;Sergovich, Fred ;Jung, Jack
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 300 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0148-7299
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We report on a patient with mosaicism for monosomy 18, a chromosomal abnormality that has been reported only once previously. The patient had cleft lip and palate and mild behavioral and academic problems. His phenotype was milder in comparison with the previously reported patient by Khalifa et al.
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