Cerebral myelin deficiency in teenage girls with the 18q- syndrome
β Scribed by Diana Lebron; Mary Ann Perle; Harry Ostrer; Elsa Reich; Max Hilz; Loretta Au; Edwin H. Kolodny
- Book ID
- 119173595
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 131 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0887-8994
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
The 18qΨ syndrome is one of the commonest deletion syndromes. Clinical characteristics are variable but may include: hypotonia, tapered digits, "carp-like" mouth, mental retardation, and hearing impairment. Growth failure (GF; both weight and height <3%) was reported in 80% of affected individuals.