Pigmentary mosaicism in hypomelanosis of Ito -: Further evidence for functional disomy of Xp

被引：20

作者：

Fritz, B

Küster, W

Orstavik, KH

Naumova, A

Spranger, J

Rehder, H

机构：

[1] Univ Marburg, Med Ctr Human Genet, Dept Clin Genet, D-35033 Marburg, Germany

[2] Univ Marburg, Dept Dermatol, D-35033 Marburg, Germany

[3] Ullevaal Univ Hosp, Dept Med Genet, N-0315 Oslo, Norway

[4] Temple Univ, Fels Inst Canc Res, Sch Med, Philadelphia, PA 19140 USA

[5] Johannes Gutenberg Univ Mainz, Dept Pediat, D-55101 Mainz, Germany

来源：

HUMAN GENETICS | 1998年 / 103卷 / 04期

关键词：

D O I：

10.1007/s004390050848

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a female with mental and motor retardation, facial dysmorphism, abnormal pigmentation reminiscent to hypomelanosis of Ito (HI), and karyotypic mosaicism involving a small supernumerary marker chromosome. The marker chromosome was defined by fluorescence in situ hybridisation (FISH) as a ring X chromosome with breakpoints in the juxtacentromeric region. FISH analysis showed that the ring does not include the XIST locus at the X-inactivation centre and, therefore, may not be subject to X inactivation. X-inactivation studies with the HUMARA (human androgen receptor) and FMR1 assay showed a skewed X-inactivation pattern (85:15) with preferential inactivation of the paternal X chromosome. These results are discussed with respect to the role of functional disomy of Xp in the pathogenesis of HI.

引用

页码：441 / 449

页数：9

共 52 条

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