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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1997 Apr;60(4):910–916.

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.

M Lagerström-Fermér 1, M Sundvall 1, E Johnsen 1, G L Warne 1, S M Forrest 1, J D Zajac 1, A Rickards 1, D Ravine 1, U Landegren 1, U Pettersson 1
PMCID: PMC1712462  PMID: 9106538

Abstract

We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary.

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Selected References

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