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Mosaicism and phenotype in ring chromosome 20 syndrome

✍ Scribed by T. Nishiwaki; M. Hirano; M. Kumazawa; S. Ueno

Book ID
109337155
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
101 KB
Volume
111
Category
Article
ISSN
0001-6314

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We present a patient with features suggestive of Seckel syndrome who was found to be mosaic for ring 4 chromosome. Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe retardation,