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Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia

โœ Scribed by Katsuyuki Obikane; Taiji Nakashima; Yoshihiko Watarai; Ken Morita; Kazutoshi Cho; Hidefumi Tonoki; Michio Nagata; Satoshi Sasaki


Publisher
Springer
Year
2006
Tongue
English
Weight
180 KB
Volume
21
Category
Article
ISSN
0931-041X

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We report on a reciprocal translocation t(X;16)(q28;p12) detected in a newborn girl with clinical manifestations of partial trisomy 16p. A balanced translocation was found in the mother and in the maternal grandmother. Replication studies on lymphocytes and fibroblasts showed nonrandom X-inactivatio