Abstract
Incontinentia pigmenti (IP) is a rare disorder which affects organs and tissues of ectodermal and mesodermal origin. It is characterized by swirled patterns of hyperpigmentation. In some cases, the condition is also associated with malformations of the teeth, nails, skeleton, hair, eyes, and the central nervous system. The disorder is inherited as an X-linked dominant trait and mostly affects females. However, there have been several cases of IP in males that survived to birth. While IP in females could be caused by a skewed pattern of X-inactivation, three mechanisms: namely, the half-chromatid hypothesis, unstable pre-mutation, and a higher rate of de-novo germline mutations, have been proposed to explain the survival of affected male patients. Cytogenetic studies in several sporadic cases with signs similar to IP exhibited an X/autosomal translocation involving a breakpoint at Xp11, suggesting a gene locus on Xp11 (IP1). Li
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Received: August 15, 2000 / Accepted: August 30, 2000
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Shastry, B. Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome). J Hum Genet 45, 323–326 (2000). https://doi.org/10.1007/s100380070001
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DOI: https://doi.org/10.1007/s100380070001
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