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一名30岁女性的1号染色体短臂间质性缺失

Interstitial deletion 1p in a 30 year old woman.

作者信息

Petersen M B, Warburg M

出版信息

J Med Genet. 1987 Apr;24(4):229-31. doi: 10.1136/jmg.24.4.229.

DOI:10.1136/jmg.24.4.229
PMID:2953897
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050002/
Abstract

High resolution chromosome analysis showed the karyotype 46,XX,del(1)(p22.1 p31.2) in a 30 year old woman with psychomotor retardation and various malformations. Determination of the enzyme phosphoglucomutase 1 (PGM1) showed that she was a heterozygote. Three other cases of interstitial deletion 1p have been reported previously, and one of these cases had several features in common with our case, suggesting a distinct syndrome.

摘要

高分辨率染色体分析显示，一名患有精神运动发育迟缓及多种畸形的30岁女性的核型为46,XX,del(1)(p22.1 p31.2)。磷酸葡萄糖变位酶1（PGM1）的酶检测表明她是杂合子。此前已有另外3例1号染色体间质性缺失的病例报道，其中1例与我们的病例有若干共同特征，提示这是一种独特的综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ac/1050002/fe3c84fe640f/jmedgene00078-0038-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ac/1050002/aa1cc90adb79/jmedgene00078-0037-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ac/1050002/fe3c84fe640f/jmedgene00078-0038-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ac/1050002/aa1cc90adb79/jmedgene00078-0037-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93ac/1050002/fe3c84fe640f/jmedgene00078-0038-a.jpg

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1
Interstitial deletion 1p in a 30 year old woman.一名30岁女性的1号染色体短臂间质性缺失
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引用本文的文献

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Case Rep Genet. 2025 Jul 27;2025:6152118. doi: 10.1155/crig/6152118. eCollection 2025.
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Clin Case Rep. 2019 Aug 6;7(9):1735-1740. doi: 10.1002/ccr3.2358. eCollection 2019 Sep.
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Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.

本文引用的文献

1
Monosomy 1pter.1号染色体短臂单体性
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The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation.新生儿不平衡易位的确定及其影响。家族性1:15易位。
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Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.1p31.3 - p32.2区域的比较性缺失图谱表明，NFIA基因与智力残疾伴巨头畸形有关，并且还存在其他几个导致综合征性智力残疾的基因。
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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.基于微阵列的比较基因组杂交技术（阵列比较基因组杂交，array-CGH）可检测学习障碍/智力迟钝及畸形特征患者的亚显微染色体缺失和重复。
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Two cases of interstitial deletion 1p.两例1p间质缺失病例。
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8
De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).1号染色体短臂从头至尾的间质性缺失（pter----p34.1::p32.3----qter）
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The level of 6-phosphogluconate dehydrogenase (6-PGD) activity in a patient with 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1.一名患有1p末端缺失的患者体内6-磷酸葡萄糖酸脱氢酶（6-PGD）的活性水平表明，该基因座不在1号染色体p36.3亚带的远端。
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A large deletion of chromosome no. 1 (46,XY,1?--).1号染色体的大片段缺失（46，XY，1？--）
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[An uncommon malformation-retardation syndrome with "sheep-like face" and associated with autosomal structural aberration (author's transl)].
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[A new malformation-retardation syndrome (Wiedemann and Tolksdorf) (author's transl)].
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Interstitial deletion 1p as a result of a de novo reciprocal 1p;2p translocation.
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De novo interstitial deletion del(1)(p21p32).新发间质性缺失del(1)(p21p32)
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