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
A case of trisomy 18 mosaicism with peculiar features
β Scribed by L. Pavone; H. Zellweger; G. Abbo; R. Gauchat; B. Knecht
- Publisher
- Springer
- Year
- 1970
- Tongue
- English
- Weight
- 380 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0340-6717
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We report on a patient with hypomelanosis of Ito (HI), developmental delay, recurrent pneumonia, and facial asymmetry. Chromosome analysis done on blood and on one of three skin biopsies showed trisomy 18 mosaicism. This is the first report of HI associated with trisomy 18 mosaicism. This neuroectod
An 8-year-old male with mental retardation, speech difficulties, and minor congenital anomalies is presented. The clinical findings suggest the trisomy-8 syndrome. The karyotype indicates trisomy-8 mosaicism with trisomic as well as normal cell lines in blood lymphocytes.