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Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings

✍ Scribed by Hamel, Ben C. J.; Smits, Arie P. T.; Otten, Barto J.; van den Helm, Bellinda; Ropers, Hans-Hilger; Mariman, Edwin C. M.

Book ID
102645680
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
67 KB
Volume
64
Category
Article
ISSN
0148-7299

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✦ Synopsis

We report on several members of a family with varying degrees of X-linked mental retardation (XLMR), isolated growth hormone deficiency (IGHD), and infantile behaviour but without other consistent phenotypic abnormalities. Male patients continued to grow until well into their twenties and reached a height ranging from 135 to 159 cm. Except one, all female carriers were mentally normal; their adult height ranged from 159 to 168 cm. By linkage studies we have assigned the underlying genetic defect to the Xq24-q27.3 region, with a maximum lod score of Z = 3.26 at 0 = 0.0 for the DXS294 locus. The XLMR-IGHD phenotype in these patients may be due to pleiotropic effects of a single gene or it may represent a contiguous gene syndrome. @

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