✦ LIBER ✦

Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus

✍ Scribed by Langley, J. M. ;Balfe, J. W. ;Selander, T. ;Ray, P. N. ;Clarke, J. T. R.

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 520 KB
Volume: 38
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320380120

No coin nor oath required. For personal study only.

✦ Synopsis

We report on 2 intellectually normal sisters with vasopressin-resistant (nephrogenic) diabetes insipidus (NDI). The sex of the patients, the history of parental consanguinity, and the fact that both parents formed normally concentrated urine suggested that the NDI in the 2 sisters was the result of inheritance of an autosomal recessive mutation affecting renal tubular water reabsorption. The results of DNA analysis of the DXS52 locus with the use of St14 as probe, shown by Knoers et al. [19881 to be tightly linked to the NDI locus on the X-chromosome, showed that each girl inherited different Xq28 regions of the maternal X chromosomes, ruling out a diagnosis of classical X-linked NDI.

📜 SIMILAR VOLUMES

Autosomal-recessive inheritance of benig

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

✍ de Koning, Tom J. ;Sandkuijl, Lodewijk A. ;de Schryver, Jan E. A. R. ;Hennekam, 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 404 KB 👁 1 views

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal-recessive and autosomal-dominant inheritance have been co

Additional case of opsismodysplasia supp

Additional case of opsismodysplasia supporting autosomal recessive inheritance

✍ Beemer, Frits A. ;Kozlowski, Kazimierz S. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB 👁 1 views

Evidence for autosomal recessive inherit

Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford)

✍ Maciel, Andréa Trevas ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 295 KB 👁 2 views

Case report of vasopressin-responsive di

Case report of vasopressin-responsive diabetes insipidus associated with chronic myelogenous leukemia

✍ David Juan; Shu-Dean Hsu; James Hunter 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB

A sixth case in the world literature is reported of a 59-year-old male with diabetes insipidus (DI) associated with chronic myelogenous leukemia (CML). The patient is unique in that his CML was diagnosed 10 years before he presented with vasopressin-responsive DI. Radiation to the central nervous sy

Genetics of conotruncal malformations: F

Genetics of conotruncal malformations: Further evidence of autosomal recessive inheritance

✍ Rein, Azaria J. J. T. ;Sheffer, Ruth 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 108 KB 👁 2 views

Two new cases of Cumming syndrome confir

Two new cases of Cumming syndrome confirming autosomal recessive inheritance

✍ P�rez del R�o, M.J.; Fern�ndez-Toral, J.; Madrigal, B.; Gonz�lez-Gonz�lez, M.; A 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 3 views

to that first described by Cumming et al. [