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Triplication of 8p22–8p23 in a patient with features similar to Kabuki syndrome

✍ Scribed by Joseph T.C. Shieh; Louanne Hudgins; Athena M. Cherry; Zhezhong Shen; H. Eugene Hoyme


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
160 KB
Volume
140A
Category
Article
ISSN
1552-4825

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## Abstract A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a cor