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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 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