Fine-Mapping Of 1p36 Deletion, Related To The Manifestation Of Hirsutism

Fine-Mapping Of 1p36 Deletion, Related To The Manifestation Of Hirsutism

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Author(s)

Author(s): Ivanka Dimova, Nikolova D., Nesheva D.

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598 1115 43-48 Volume 2 - Feb 2013

Abstract

Rearrangements of 1p36 resulting in deletion are observed in 1 in 5,000 live births. Molecular characterisation of deletions, along with phenotypic correlations, have yielded regions in which to search for genes related to specific features of the syndrome.We report a child with sub-telomeric interstitial 1p36 deletion, spanning 3,683,364-8,822,150 bp (1p36.33-1p36.23) region. The capability of aCGH to provide high-resolution mapping of variation in copy number has been demonstrated. Determining the smallest region of overlap, we narrowed the common region between cases with hirsutism on chromosome 1 band 1p36.23 between 7,500,000 and 8,500,000 bp. Since our patient has overlapped symptom of hirsutism with the patients of proximal 1p36 deletion syndrome, we therefore searched the database to identify potential candidate genes for this feature. We suggest a new candidate-gene for hirsutism – PARK7, which is related to the function of androgens and hyperandrogenaemia. The suggestion is based on the location of this gene in the narrowed deleted 1p36.23 region in patients, affected by hirsutism together with other features of 1p36 monosomy syndrome.

Keywords

mental retardation, array CGH, 1p36 deletion, hirsutism

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International Journal of Sciences is Open Access Journal.
This article is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) License.
Author(s) retain the copyrights of this article, though, publication rights are with Alkhaer Publications.

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