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A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t (6;19)

โœ Scribed by P. D. Pallister; K. Patau; S. L. Inhorn; J. M. Opitz


Book ID
119838135
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
599 KB
Volume
5
Category
Article
ISSN
0009-9163

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Tissue limited mosaicism for unbalanced
โœ Robert L. Summitt; Avirachan T. Tharapel; Robert S. Wilroy ๐Ÿ“‚ Article ๐Ÿ“… 1977 ๐Ÿ› Springer ๐ŸŒ English โš– 790 KB

We studied a patient with a sporadic mental retardation/multiple congenital anomalies syndrome. Chromosome analysis showed a 46,XX, inv(9)(p 11;q13) karyotype in all lymphocytes. Fibroblasts from two separate skin biopsies revealed a mosaic karyotype. Some 22.5% of fibroblasts had a karyotype like t