Growth hormone deficiency and empty sella syndrome in a boy with dup(X) (q13.3----q21.2).

@article{Yokoyama1992GrowthHD,
  title={Growth hormone deficiency and empty sella syndrome in a boy with dup(X) (q13.3----q21.2).},
  author={Yoshie Yokoyama and Kouji Narahara and Keiko Tsuji and Tadashi Moriwake and Susumu Kanzaki and Masae Murakami and Hiroyuki Namba and Shinsuke Ninomiya and Junko Higuchi and Yoshiki Seino},
  journal={American journal of medical genetics},
  year={1992},
  volume={42 5},
  pages={660-4}
}
A 2 8/12-year-old boy with severe growth failure and mental retardation was found to have a maternally derived tandem duplication of the long arm of X chromosome, dup(X) (q13.3----q21.2). Karyotypic interpretation was further confirmed in this patient by a double gene dose for red blood cell phosphoglycerate kinase. DNA replication study showed that the duplicated X chromosome was always late replicating in peripheral blood lymphocytes as well as in skin fibroblasts from the mother. Endocrine… CONTINUE READING

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