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一位46XX/47XXX嵌合型母亲的后代中的二倍体/四倍体嵌合现象。

Diploid/tetraploid mosaicism in the offspring of a 46XX/47XXX mosaic mother.

作者信息

Reddy C M, Singh D N, Crump E P

出版信息

J Natl Med Assoc. 1977 Aug;69(8):563-4.

PMID:904007
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2609611/
Abstract

A 10½-year-old boy with an IQ of 71, short stature, and isolated growth hormone deficiency was found to have diploid/tetraploid mosaicism. He was born to a 46xx/47xxx mosaic mother. The mother was found to be moderately mentally retarded but showed no other abnormalities. A review of literature pertinent to this case is presented.

摘要

一名10岁半的男孩，智商为71，身材矮小，患有孤立性生长激素缺乏症，被发现存在二倍体/四倍体嵌合体现象。他的母亲是46xx/47xxx嵌合体。母亲被发现有中度智力障碍，但无其他异常。本文对与此病例相关的文献进行了综述。

相似文献

1
Diploid/tetraploid mosaicism in the offspring of a 46XX/47XXX mosaic mother.一位46XX/47XXX嵌合型母亲的后代中的二倍体/四倍体嵌合现象。
J Natl Med Assoc. 1977 Aug;69(8):563-4.
2
Diploid-tetraploid mosaicism in a malformed boy.
Clin Genet. 1985 Feb;27(2):183-6. doi: 10.1111/j.1399-0004.1985.tb00208.x.
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Diploid-triploid and tetraploid mosaicism in a child with cryptogenic cirrhosis and membranous glomerulonephritis: a causal relationship or coincidental association?
Turk J Pediatr. 1998 Jan-Mar;40(1):139-43.
4
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.
5
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.
6
Information about diploid-tetraploid mosaicism in a six-year-old male.
Clin Genet. 1985 Dec;28(6):567-8. doi: 10.1111/j.1399-0004.1985.tb00429.x.
7
Development of cytochalasin in B-induced tetraploid and diploid/tetraploid mosaic mouse embryos.
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8
Diploid-triploid mosaicism: delineation of the syndrome.二倍体 - 三倍体嵌合体：综合征的描述
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9
[A case of diploid/tetraploid mosaicism].[一例二倍体/四倍体嵌合体病例]
No To Hattatsu. 1988;20(5):413-7.
10
Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review.仅在骨髓中可证实的活产婴儿二倍体/四倍体嵌合体：病例报告及文献综述
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引用本文的文献

1
Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature.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。
Clin Case Rep. 2017 Nov 29;6(1):103-108. doi: 10.1002/ccr3.1114. eCollection 2018 Jan.
2
Endocrine disorders associated with mental retardation.与智力迟钝相关的内分泌疾病。
J Natl Med Assoc. 1980 Mar;72(3):221-7.

本文引用的文献

1
Proceedings of the anatomical society of australia and new zealand, may 1968.《澳大利亚和新西兰解剖学会会刊》，1968年5月
J Anat. 1969 Mar;104(Pt 2):399-410.
2
FAMILIAL MOSAICISM ATTRIBUTABLE TO A NEW GENE.由一个新基因导致的家族性镶嵌现象。
Lancet. 1965 May 1;1(7392):963-4. doi: 10.1016/s0140-6736(65)91300-0.
3
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.一种用于检测氨基酸代谢紊乱的简单色谱筛查试验。一种使用滤纸采集的全血或尿液的技术。
N Engl J Med. 1964 Jun 25;270:1378-83. doi: 10.1056/NEJM196406252702602.
4
Screening for inborn errors of metabolism associated with mental deficiency or neurologic disorders or both.
N Engl J Med. 1966 Feb 17;274(7):384-7. doi: 10.1056/NEJM196602172740705.
5
The triplo-X female: an appraisal based on a study of 12 cases and a review of the literature.三X染色体女性：基于12例病例研究及文献综述的评估
Can Med Assoc J. 1969 Sep 6;101(5):247-58.
6
Population cytogenetic investigation of newborns in Moscow.莫斯科新生儿的群体细胞遗传学研究。
Humangenetik. 1974 May 17;22(2):139-52. doi: 10.1007/BF00278453.
7
XXY son of a possibly XX-XXX mother.
Lancet. 1972 Mar 25;1(7752):697-8. doi: 10.1016/s0140-6736(72)90512-0.
8
XXY son of XX-XXX mother.
Lancet. 1972 Apr 29;1(7757):955. doi: 10.1016/s0140-6736(72)91514-0.
9
Chromosome mosaicism in a population sample.群体样本中的染色体嵌合现象。
Humangenetik. 1975 Sep 10;29(2):155-9. doi: 10.1007/BF00430354.
10
XXYY son of a triple-X mother.一位XXX母亲的XXYY儿子。
Humangenetik. 1975;26(2):159-60. doi: 10.1007/BF00278447.