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一名儿童因父源性臂间插入倒位导致间质性3p缺失。

Interstitial 3p deletion in a child due to paternal paracentric inserted inversion.

作者信息

Wyandt H E, Kasprzak R, Ennis J, Willson K, Koch V, Schnatterly P, Wilson W, Kelly T E

出版信息

Am J Hum Genet. 1980 Sep;32(5):731-5.

PMID:7424912
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1686100/
Abstract

An infant with multiple anomalies and developmental delay during his first year was found to have an intersitital deletion of band p14 from the proximal short arm of chromosome 3. Examination of the father's chromosomes indicates an "inserted paracentric inversion" in chromosome 3 as the probable origin of the deletion in the child.

摘要

一名在出生后第一年出现多种异常和发育迟缓的婴儿，被发现其3号染色体短臂近端p14带存在间质缺失。对父亲染色体的检查表明，3号染色体中的“插入性臂内倒位”可能是导致孩子出现该缺失的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88e9/1686100/e479a4b7be36/ajhg00191-0097-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88e9/1686100/268e55dbd6a3/ajhg00191-0096-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88e9/1686100/e6b975947b4a/ajhg00191-0097-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88e9/1686100/e479a4b7be36/ajhg00191-0097-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88e9/1686100/268e55dbd6a3/ajhg00191-0096-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88e9/1686100/e6b975947b4a/ajhg00191-0097-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/88e9/1686100/e479a4b7be36/ajhg00191-0097-b.jpg

相似文献

1
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A familial paracentric inv(1)(q42q44) resulting in a child with a del(1)(q42) karyotype.一个家族性臂内倒位inv(1)(q42q44)导致一名儿童具有del(1)(q42)核型。
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引用本文的文献

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Interstitial Chromosome 3p13p14 Deletions: An Update and Review.间质性3号染色体p13p14缺失：最新进展与综述
Mol Syndromol. 2018 May;9(3):122-133. doi: 10.1159/000488168. Epub 2018 Apr 7.
2
A Saudi Patient with an Interstitial Deletion of Short Arm of Chromosome 3 (p13 to p21) and its Association with Joubert's Syndrome Features.一名患有3号染色体短臂（p13至p21）间质性缺失及其与朱伯特综合征特征关联的沙特患者。
J Clin Neonatol. 2013 Jan;2(1):46-9. doi: 10.4103/2249-4847.109250.
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Cytogenetics of an intrachromosomal transposition in Neurospora.

本文引用的文献

1
Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus.由于“移位”导致的1号染色体部分三体以及达菲（Fy）基因座的可能位置。
Am J Hum Genet. 1977 Jul;29(4):371-7.
2
A patient with a partial deletion of the short arm of chromosome 3.一名患有3号染色体短臂部分缺失的患者。
Am J Dis Child. 1978 Jan;132(1):43-5. doi: 10.1001/archpedi.1978.02120260045012.
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Chromosome 13 long arm interstitial deletion may result from maternal inverted insertion.
Science. 1979 Sep 7;205(4410):1035-6. doi: 10.1126/science.472726.
粗糙脉孢菌染色体内转座的细胞遗传学
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Paracentric inversions: a review.臂间倒位：综述
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A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique.一名患有3号染色体短臂间质性缺失的女孩，采用高分辨率显带技术进行了研究。
Hum Genet. 1981;59(2):178-81. doi: 10.1007/BF00293073.
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Hum Genet. 1984;67(2):121-5. doi: 10.1007/BF00272985.
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Familial paracentric inversion inv(2)(q31q36).家族性臂内倒位inv(2)(q31q36)
Hum Genet. 1985;71(3):270-2. doi: 10.1007/BF00284590.
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Paracentric inversions in man.人类的臂内倒位
Hum Genet. 1986 Jul;73(3):205-13. doi: 10.1007/BF00401228.
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Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature.一名智力发育迟缓男孩的纯合子臂内倒位12：病例报告及文献复习
Hum Genet. 1987 Feb;75(2):101-8. doi: 10.1007/BF00591068.
10
Familial pericentric and paracentric inversions of chromosome 1.1号染色体的家族性臂间倒位和臂内倒位。
Hum Genet. 1988 Aug;79(4):315-20. doi: 10.1007/BF00282168.
4
Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q.视网膜母细胞瘤伴13号染色体长臂缺失，与母亲13号染色体臂间倒位相关。
Science. 1979 Mar 9;203(4384):1027-9. doi: 10.1126/science.424728.