1. Three new cases with a supernumerary ring chromosome 1
- Author
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Maria Martínez-Frías, Laura Rodríguez, Nieves Martínez Guardia, Heidemarie Neitzel, Peter Kozlowski, Anita Heller, Elena Mansilla, Thomas Liehr, M. Santos Muñoz, Holger Tönnies, Fermina López Grondona, M.-L. Mazauric, and Heike Starke
- Subjects
Euchromatin ,business.industry ,Ring chromosome ,Chromosome ,Ring Chromosome 1 ,Karyotype ,Signs and symptoms ,General Medicine ,Anatomy ,Pathology and Forensic Medicine ,Pediatrics, Perinatology and Child Health ,Medicine ,Supernumerary ,business ,Small supernumerary marker chromosome ,Genetics (clinical) - Abstract
We report on three cases with a cytogenetically identical ring chromosome containing euchromatin from the long arm of chromosome 1 (r[1][::p11.1-->q21.1::]). Two cases were newborn males (Cases 1 and 2) and the third one was prenatally identified as female (Case 3). Mosaicism was present in all three cases in different degrees, i.e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature.
- Published
- 2005
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