Deletions within chromosome band 22q11.2 are associated with a variety of conditions, although a simple genotype-phenotype correlation has not been established so far. Environmental factors, chance events, or a second hit theory were supported by two observations of monozygotic twins with 22q11.2 de
Smith-Fineman-Myers syndrome in apparently monozygotic twins
β Scribed by Guion-Almeida, Maria Leine; Tabith, Alfredo; Kokitsu-Nakata, Nancy Mizue; Zechi, Roseli Maria
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 35 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980923)79:3<205::aid-ajmg11>3.0.co;2-l
No coin nor oath required. For personal study only.
β¦ Synopsis
We report on two boys, monozygotic twins born to normal and nonconsanguineous parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia, hyperactivity, psychomotor retardation, and severe delay in language development. These manifestations resemble those previously described in the Smith-Fineman-Myers syndrome.
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