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一名患有雅各布森综合征区域11q 24间质缺失的新生儿出现脑室扩大和小脑发育不全。

Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region.

作者信息

Puvabanditsin Surasak, Chen Charlotte Wang, Botwinick Marissa, Hussein Karen, Mariduena Joseph, Mehta Rajeev

机构信息

Department of Pediatrics Rutgers Robert Wood Johnson Medical School New Brunswick New Jersey.

出版信息

Clin Case Rep. 2018 May 22;6(7):1268-1275. doi: 10.1002/ccr3.1560. eCollection 2018 Jul.

DOI:10.1002/ccr3.1560
PMID:29988670
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6028426/
Abstract

Jacobsen syndrome (JS) is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. We report a term male neonate with an interstitial deletion of about 12.3 megabase (Mb) of chromosome 11q24.1qter. Our case is the first reported newborn patient with 11q24 deletion.

摘要

雅各布森综合征（JS）是一种罕见的连续性基因疾病，由11号染色体长臂远端部分的部分缺失引起，缺失大小从7到20兆碱基对（Mb）不等。我们报告了一名足月男婴，其11号染色体q24.1qter区域存在约12.3兆碱基对（Mb）的间质性缺失。我们的病例是首例报道的患有11q24缺失的新生儿患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/2f7d249da823/CCR3-6-1268-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/6c081109a487/CCR3-6-1268-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/99c279304165/CCR3-6-1268-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/e8c5e184a95c/CCR3-6-1268-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/5053237fe022/CCR3-6-1268-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/2f7d249da823/CCR3-6-1268-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/6c081109a487/CCR3-6-1268-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/99c279304165/CCR3-6-1268-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/e8c5e184a95c/CCR3-6-1268-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/5053237fe022/CCR3-6-1268-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8755/6028426/2f7d249da823/CCR3-6-1268-g005.jpg

相似文献

[1]
Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region.

Clin Case Rep. 2018-5-22

[2]
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.

Am J Med Genet A. 2012-9-10

[3]
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

Am J Med Genet A. 2014-2

[4]
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.

Mol Cytogenet. 2008-11-11

[5]
Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome.

J Genet. 2022

[6]
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.

Clin Med Insights Pediatr. 2014-9-17

[7]
Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.

Mol Syndromol. 2017-1

[8]
The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.

J Clin Immunol. 2015-11

[9]
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.

Genet Med. 2014-7-24

[10]
de novo interstitial deletions at the 11q23.3-q24.2 region.

Mol Cytogenet. 2016-5-5

引用本文的文献

[1]
KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype.

Ital J Pediatr. 2023-8-21

[2]
Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report.

J Med Case Rep. 2022-3-24

[3]
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.

Ital J Pediatr. 2021-7-1

本文引用的文献

[1]
Interstitial 11q24 deletion: a new case and review of the literature.

J Appl Genet. 2016-8

[2]
11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.

Am J Med Genet A. 2015-12

[3]
Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.

Am J Med Genet C Semin Med Genet. 2015-9

[4]
A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex.

J Pediatr Hematol Oncol. 2015-10

[5]
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

Am J Med Genet A. 2014-2

[6]
Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature.

Int J Pediatr Otorhinolaryngol. 2013-9

[7]
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.

Am J Med Genet A. 2012-9-10

[8]
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.

Hum Mol Genet. 2009-11-26

[9]
Jacobsen syndrome.

Orphanet J Rare Dis. 2009-3-7

[10]
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.

Mol Cytogenet. 2008-11-11

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