Genotype/phenotype analysis in a patient with pure and complete trisomy 12p
✍ Scribed by Walter Zumkeller; Marianne Volleth; Petra Muschke; Holger Tönnies; Anita Heller; Thomas Liehr; Peter Wieacker; Markus Stumm
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 165 KB
- Volume
- 129A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Pure and complete 12p trisomy are rare. Here, we report on a unique patient with trisomy 12p syndrome due to centric fission of maternal chromosome 12. Conventional cytogenetic and fluorescence in situ hybridization (FISH) techniques revealed the proposita's karyotype to be 47,XX,+fis(1
## Abstract Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13‐year‐old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumerary marker chromosome (SMC). Using fluorescence in situ hybridizat