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一名毛发和皮肤色素异常患者的四倍体-二倍体嵌合体：一种新的皮肤病学特征。

Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature.

作者信息

Schacht John Paul, Farnworth Elisha, Hogue Jacob, Rohena Luis

机构信息

Department of Pediatrics Division of Clinical Genetics Columbia University Medical Center New York City New York.

Flight Medicine Clinic 92nd Medical Group Fairchild Air Force Base Tacoma Washington.

出版信息

Clin Case Rep. 2017 Nov 29;6(1):103-108. doi: 10.1002/ccr3.1114. eCollection 2018 Jan.

DOI:10.1002/ccr3.1114
PMID:29375847
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5771914/
Abstract

Tetraploid-diploid mosaicism in humans is exceedingly rare. We present an 11-year-old boy with tetraploid-diploid mosaicism and coexistent hair hypopigmentation with skin hypo- and hyperpigmentation. This case expands the current literature as we are not aware of previous documentation of this unique combination of pigmentary anomalies.

摘要

人类四倍体 - 二倍体嵌合体极为罕见。我们报告了一名11岁男孩，患有四倍体 - 二倍体嵌合体，并伴有毛发色素减退以及皮肤色素减退和色素沉着。该病例扩展了现有文献，因为我们未发现此前有关于这种独特色素异常组合的记录。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/7b726bc52d8c/CCR3-6-103-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/7476dd6d6d73/CCR3-6-103-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/85def3e46982/CCR3-6-103-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/00b306ff9bc6/CCR3-6-103-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/f52491261ea9/CCR3-6-103-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/7b726bc52d8c/CCR3-6-103-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/7476dd6d6d73/CCR3-6-103-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/85def3e46982/CCR3-6-103-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/00b306ff9bc6/CCR3-6-103-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/f52491261ea9/CCR3-6-103-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49e2/5771914/7b726bc52d8c/CCR3-6-103-g005.jpg

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引用本文的文献

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2
Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review.色素镶嵌症作为三例新诊断的产后嵌合体 12 三体综合征患者的常见临床表现：病例报告及文献复习。
BMC Med Genomics. 2022 Oct 31;15(1):224. doi: 10.1186/s12920-022-01382-x.
3
Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.

本文引用的文献

1
The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): clinical report.
Am J Med Genet A. 2015 Jul;167(7):1650-3. doi: 10.1002/ajmg.a.37062. Epub 2015 Apr 6.
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Generalized aggressive periodontitis in a child with 92, XXYY / 46,XY mosaicism: report of a second case.
Turk J Pediatr. 2010 Jan-Feb;52(1):94-6.
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Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature.活产婴儿中的嵌合型和完全四倍体：两例新病例及文献综述
Clin Dysmorphol. 2010 Jul;19(3):123-127. doi: 10.1097/MCD.0b013e3283353877.
4
73 例色素镶嵌症患者的遗传学和临床特征分析：揭示临床表现的遗传基础。
Orphanet J Rare Dis. 2019 Nov 15;14(1):259. doi: 10.1186/s13023-019-1208-0.
Rare finding of 2n/4n mixoploidy in mother and fetus with severe immune hydrops.母亲和胎儿出现罕见的2n/4n混合倍体，伴有严重免疫性水肿。
Cytogenet Genome Res. 2009;124(1):90-3. doi: 10.1159/000200092. Epub 2009 Apr 15.
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Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia.一名严重慢性中性粒细胞减少症患者的镶嵌四倍体和短暂性GFI1突变
Pediatr Blood Cancer. 2008 Mar;50(3):630-2. doi: 10.1002/pbc.21094.
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Tetraploid/diploid mosaicism with generalized aggressive periodontitis.四倍体/二倍体嵌合体与广泛性侵袭性牙周炎
J Periodontol. 2005 Sep;76(9):1567-71. doi: 10.1902/jop.2005.76.9.1567.
7
Interphase-FISH study in three patients with tetraploid/diploid mosaicism.
Eur J Med Genet. 2005 Jan-Mar;48(1):41-50. doi: 10.1016/j.ejmg.2005.01.009. Epub 2005 Feb 1.
8
Tetraploid/diploid mosaicism: case report and review of the literature.
Ann Genet. 2002 Oct-Dec;45(4):177-80. doi: 10.1016/s0003-3995(02)01137-1.
9
Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry.
Am J Med Genet. 2002 Sep 15;112(1):86-90. doi: 10.1002/ajmg.10662.
10
Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko.沿布拉斯科线分布的54例色素减退和色素沉着病例分析。
Arch Dermatol. 1996 Oct;132(10):1167-70.