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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 theta = 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.
B C Hamel, and
A P Smits, and
B J Otten, and
B van den Helm, and
H H Ropers, and
E C Mariman
March 1998,
American journal of medical genetics,
B C Hamel, and
A P Smits, and
B J Otten, and
B van den Helm, and
H H Ropers, and
E C Mariman
December 1984,
Clinical pediatrics,
B C Hamel, and
A P Smits, and
B J Otten, and
B van den Helm, and
H H Ropers, and
E C Mariman
January 1983,
Clinical genetics,
B C Hamel, and
A P Smits, and
B J Otten, and
B van den Helm, and
H H Ropers, and
E C Mariman
June 1980,
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B C Hamel, and
A P Smits, and
B J Otten, and
B van den Helm, and
H H Ropers, and
E C Mariman
May 1991,
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B C Hamel, and
A P Smits, and
B J Otten, and
B van den Helm, and
H H Ropers, and
E C Mariman
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B C Hamel, and
A P Smits, and
B J Otten, and
B van den Helm, and
H H Ropers, and
E C Mariman
December 2002,
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B C Hamel, and
A P Smits, and
B J Otten, and
B van den Helm, and
H H Ropers, and
E C Mariman
September 1995,
Journal of immunology (Baltimore, Md. : 1950),
B C Hamel, and
A P Smits, and
B J Otten, and
B van den Helm, and
H H Ropers, and
E C Mariman
October 1981,
Proceedings of the National Academy of Sciences of the United States of America,
B C Hamel, and
A P Smits, and
B J Otten, and
B van den Helm, and
H H Ropers, and
E C Mariman
December 1985,
Archives of dermatology,
