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Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation

โœ Scribed by Chih-Ping Chen; Chyi-Chyang Lin; Yueh-Chun Li; Lie-Jiau Hsieh; Chen-Chi Lee; Wayseen Wang


Book ID
116468900
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
82 KB
Volume
86
Category
Article
ISSN
1556-5653

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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