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11例9p缺失新病例及80例病例的特征。

Eleven new cases of del(9p) and features from 80 cases.

作者信息

Huret J L, Leonard C, Forestier B, Rethoré M O, Lejeune J

机构信息

Cytogénétique Laboratoire d'Hématologie, CHU La Milétrie, Poitiers, France.

出版信息

J Med Genet. 1988 Nov;25(11):741-9. doi: 10.1136/jmg.25.11.741.

DOI:10.1136/jmg.25.11.741
PMID:3070043
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051577/
Abstract

We report 11 cases of del(9p) and review 69 previously published ones. Of the 80 cases, 39 have a del(9p) as the sole anomaly. The symptoms are typical and diagnosis should be suspected at birth. The sex ratio does not appear to be unbalanced. A cardiac murmur is often present but surgery is rarely necessary. Mean IQ is 48. The number of reported cases with an associated trisomy has previously been underestimated. Death in infancy, owing mainly to gross visceral malformations, occurs more often in cases of del(9p) with another unbalanced chromosome segment (16/41) than in cases of del(9p) as the sole anomaly (1/39).

摘要

我们报告了11例9号染色体短臂缺失（del(9p)）的病例，并回顾了之前发表的69例病例。在这80例病例中，39例仅有del(9p)这一异常情况。其症状典型，出生时就应怀疑诊断。性别比例似乎并无失衡。常伴有心脏杂音，但很少需要手术治疗。平均智商为48。之前伴有三体综合征的报告病例数量被低估了。主要由于严重内脏畸形导致的婴儿期死亡，在伴有另一个染色体不平衡片段的del(9p)病例（16/41）中比仅为del(9p)异常的病例（1/39）中更常见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/2b9fc0fe1f7a/jmedgene00073-0025-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/6c07e16c5743/jmedgene00073-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/5addf7535222/jmedgene00073-0023-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/11333b20e20e/jmedgene00073-0024-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/11a7350cb631/jmedgene00073-0024-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/0b3fbe0e5160/jmedgene00073-0025-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/2b9fc0fe1f7a/jmedgene00073-0025-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/6c07e16c5743/jmedgene00073-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/5addf7535222/jmedgene00073-0023-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/11333b20e20e/jmedgene00073-0024-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/11a7350cb631/jmedgene00073-0024-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/0b3fbe0e5160/jmedgene00073-0025-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/2b9fc0fe1f7a/jmedgene00073-0025-b.jpg

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本文引用的文献

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Deletion of the short arm of chromosome 9. A clinically recognisable entity.9号染色体短臂缺失。一种临床可识别的病症。
Eur J Pediatr. 1980 Sep;134(3):201-4. doi: 10.1007/BF00441473.
2
Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families.两个相互易位t(9p+;13q-)和t(13q-;21q+)：家族研究
Hum Genet. 1980;54(1):7-11. doi: 10.1007/BF00279042.
3
Duplication of region 2q31 leads to 2qter in a family with 2/9 translocation.在一个发生2/9易位的家族中，2q31区域的重复导致了2q末端。
一种源自复杂结构变异的种系嵌合KANK1-DMRT1转录本与一个在五代人中分离的先天性心脏缺陷相关。
Res Sq. 2023 Dec 13:rs.3.rs-3740005. doi: 10.21203/rs.3.rs-3740005/v1.
4
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.9p 缺失综合征心脏表型的研究进展：意大利多中心经验及文献复习。
Genes (Basel). 2023 Jan 5;14(1):146. doi: 10.3390/genes14010146.
5
From karyotypes to precision genomics in 9p deletion and duplication syndromes.从核型分析到9p缺失和重复综合征的精准基因组学
HGG Adv. 2021 Dec 24;3(1):100081. doi: 10.1016/j.xhgg.2021.100081. eCollection 2022 Jan 13.
6
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.9 号染色体末端缺失在 9 位埃及患者和三角头畸形关键区域的缩小。
Mol Genet Genomic Med. 2021 Nov;9(11):e1829. doi: 10.1002/mgg3.1829. Epub 2021 Oct 5.
7
A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal.一对具有相同核型的兄妹：两例患有部分3p重复和部分9p缺失以及性反转的同胞病例报告。
Clin Case Rep. 2021 May 6;9(5):e04141. doi: 10.1002/ccr3.4141. eCollection 2021 May.
8
Precise breakpoint detection in a patient with 9p- syndrome.9p- 综合征患者的精确断点检测。
Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3). doi: 10.1101/mcs.a005348. Print 2020 Jun.
9
Deletion in the Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract. 基因缺失与肾脏和尿路的先天性异常有关。
J Am Soc Nephrol. 2020 Jan;31(1):139-147. doi: 10.1681/ASN.2019040398. Epub 2019 Dec 20.
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Genetic Basis of Human Congenital Heart Disease.人类先天性心脏病的遗传学基础。
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Partial trisomy 12q.12号染色体长臂部分三体性
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8
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