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来自一个11q23存在遗传性脆性的家族的一名异常儿童，其11q23染色体缺失。

Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23.

作者信息

Voullaire L E, Webb G C, Leversha M A

出版信息

Hum Genet. 1987 Jun;76(2):202-4. doi: 10.1007/BF00284923.

DOI:10.1007/BF00284923
PMID:3610150
Abstract

A neonate with clinical features of the 11q23 deletion syndrome was apparently mosaic with the dominant cell line showing deletion of the chromosomal segment 11q23.3 to 11qter. The presence of a few lymphocytes with a normal karyotype indicates post-zygotic deletion of chromosome 11. The mother and brother of the propositus show folate-sensitive fragility at band 11q23.3. This case indicates in vivo deletion at a folate-sensitive fragile site.

摘要

一名具有11q23缺失综合征临床特征的新生儿明显为嵌合体，其主要细胞系显示染色体片段11q23.3至11qter缺失。少数核型正常的淋巴细胞的存在表明11号染色体发生了合子后缺失。先证者的母亲和兄弟在11q23.3带显示对叶酸敏感的脆性。该病例表明在体内叶酸敏感脆性位点发生了缺失。

相似文献

1
Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23.来自一个11q23存在遗传性脆性的家族的一名异常儿童，其11q23染色体缺失。
Hum Genet. 1987 Jun;76(2):202-4. doi: 10.1007/BF00284923.
2
Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3.脆性位点FRA11B与11q23.3处雅各布森综合征染色体缺失断点的物理连锁。
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3
Jacobsen syndrome: chromosome deletion at 11q23.雅各布森综合征：11号染色体长臂23区缺失
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Three infants having null acute lymphoblastic leukemia with chromosome rearrangements at 11q23: no involvement of a heritable fragile site in this band.
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Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B.大多数雅各布森综合征缺失断点发生在FRA11B远端。
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Induction of a BrdU-enhanceable fragile site-like lesion and sister chromatid exchanges at 11q23.1 in EBV-transformed lymphoblastoid cell lines.在EB病毒转化的淋巴母细胞系中，11q23.1处诱导出BrdU增强型类脆性位点样损伤和姐妹染色单体交换。
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Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage.雅各布森综合征中CCG重复序列与染色体缺失断点的共定位：染色体断裂共同机制的证据
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The 11q- syndrome with mosaic partial deletion of 11q.伴有11号染色体长臂部分缺失的嵌合型11q-综合征
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引用本文的文献

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Fragile sites, chromosomal lesions, tandem repeats, and disease.脆性位点、染色体病变、串联重复序列与疾病。
Front Genet. 2022 Nov 17;13:985975. doi: 10.3389/fgene.2022.985975. eCollection 2022.
2
Jacobsen syndrome.雅各布森综合征
Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9.
3
Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition.通过新生端粒添加修复的7q32和22q13.3末端缺失的特征分析

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Deletion 11q23.3 without familial predisposition.11q23.3缺失，无家族易感性。
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Familial fragile site found at the cancer breakpoint (1)(q32). Inducibility by distamycin A, concomitance with fragile (16)(q22).在癌症断点（1）（q32）处发现家族性脆性位点。可被放线菌素A诱导，与脆性位点（16）（q22）并存。
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Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.11号染色体长臂部分缺失[del(11)(q23)]：雅各布森综合征。两例新病例及临床发现回顾。
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[Partial monosomy due to long-arm deletion of chromosome 11 : del (11) (q23) (author's transl)].
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