An unusual phenotypic presentation of trisomy 18
โ Scribed by Sonal Patel; Malektaj Yazdani; Brian Barkemeyer; Yves Lacassie
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 211 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
I have read with great interest the paper by Crowe et al. [1997]. It is an excellent clinical and cytogenetic review of trisomy 22 in its various manifestations. I only wish to point out that the first proven case (by G-banding) of trisomy 22 appeared in 1973, in a paper in which we demonstrated the
In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation. Mosaicism wa
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this journal published a case report of trisomy 18 mosaicism in a 13-year-old girl with normal intelligence, delayed pubertal development, and growth failure [Sarigol and Rogers, 19941. We now report a further case of trisomy 18 mosaicism with a mild phenotype, this time presenting with congenital a