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一例具有罕见临床表现的3p部分三体综合征病例。

A case of partial trisomy 3p syndrome with rare clinical manifestations.

作者信息

Han Dong Hoon, Chang Ji Young, Lee Woo In, Bae Chong Woo

机构信息

Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.

出版信息

Korean J Pediatr. 2012 Mar;55(3):107-10. doi: 10.3345/kjp.2012.55.3.107. Epub 2012 Mar 16.

DOI:10.3345/kjp.2012.55.3.107
PMID:22474466
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3315620/
Abstract

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

摘要

3p部分三体综合征源于不平衡易位或新发重复。常见临床特征包括面部畸形、先天性心脏缺陷、精神运动和智力发育迟缓、肌张力异常以及生殖器发育不全。在本文中，我们报告了一例具有罕见临床表现的3p部分三体综合征病例。一名足月女新生儿被转诊至我们的诊所。她患有唇腭裂、胼胝体发育不全、动脉导管未闭、肺动脉高压以及严重的右侧肾积水，并伴有输尿管肾盂连接处梗阻。细胞遗传学检查显示为3p部分三体综合征；46,XX,der(4)t(3;4) (p21.1;p16)。其父亲的核型显示为平衡易位，t(3;4)(p21.1;p16)。因此，重复片段的大小可能是一个重要因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/126d/3315620/040d539516cf/kjped-55-107-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/126d/3315620/b6bfca6ec62f/kjped-55-107-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/126d/3315620/76c390d434aa/kjped-55-107-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/126d/3315620/e7d626006fa2/kjped-55-107-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/126d/3315620/040d539516cf/kjped-55-107-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/126d/3315620/b6bfca6ec62f/kjped-55-107-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/126d/3315620/76c390d434aa/kjped-55-107-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/126d/3315620/e7d626006fa2/kjped-55-107-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/126d/3315620/040d539516cf/kjped-55-107-g004.jpg

相似文献

[1]
A case of partial trisomy 3p syndrome with rare clinical manifestations.

Korean J Pediatr. 2012-3

[2]
Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.

BMC Pediatr. 2018-1-8

[3]
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Genet Couns. 2013

[4]
A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.

Korean J Lab Med. 2010-6

[5]
Molecular characterization of trisomic segment 3p24.1-->3pter: a case with review of the literature.

Clin Genet. 1995-7

[6]
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Genet Couns. 2012

[7]
A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.

BMC Med Genomics. 2018-5-8

[8]
Partial trisomy 3p syndrome.

Clin Genet. 1986-7

[9]
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Genet Couns. 2008

[10]
Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.

Ann Clin Lab Sci. 2013

引用本文的文献

[1]
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

BMC Med Genet. 2015-11-10

[2]
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.

Mol Cytogenet. 2012-12-31

本文引用的文献

[1]
Molecular characterization of trisomic segment 3p24.1-->3pter: a case with review of the literature.

Clin Genet. 1995-7

[2]
Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family.

Am J Med Genet. 1980

[3]
A new translocation syndrome (3/B).

N Engl J Med. 1966-8-11

[4]
An unusual chromosomal segregation in a family with a translocation between chromosomes 3 and 12.

J Med Genet. 1974-9

[5]
Chromosome studies of 500 couples with two or more abortions.

Obstet Gynecol. 1985-3

[6]
Partial trisomy 3p syndrome.

Clin Genet. 1986-7

[7]
Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35).

Ann Genet. 1978-9

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