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伴有严重肌张力减退和面部畸形的6q13q14.3微缺失综合征：基因型-表型相关性

6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation.

作者信息

Goyal Manisha, Faruq Mohammed, Gupta Ashok, Shrivastava Divya, Shamim Uzma

机构信息

Centre of Rare Diseases, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.

CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.

出版信息

J Pediatr Genet. 2021 Jan 6;12(2):141-143. doi: 10.1055/s-0040-1721739. eCollection 2023 Jun.

DOI:10.1055/s-0040-1721739
PMID:37090827
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10118712/
Abstract

Hypotonia is a symptom of diminished tone of skeletal muscle and can be nongenetic or a part of genetic syndrome. Hypotonia, developmental delay, and facial dysmorphism are nonspecific findings observed in many genetic syndromes mostly in chromosomal microdeletion and duplication. Here we report a case with severe hypotonia and facial dysmorphism, diagnosed with deletion at 6q13q14.3 by array comparative genomic hybridization (CGH) at very early age. Recent genetic diagnostic technologies such as array CGH may enable clinicians to diagnose chromosomal abnormalities earlier and provide appropriate medical management.

摘要

肌张力减退是骨骼肌张力降低的一种症状，可为非遗传性或遗传综合征的一部分。肌张力减退、发育迟缓和面型畸形是许多遗传综合征中观察到的非特异性表现，多见于染色体微缺失和微重复。在此，我们报告1例患有严重肌张力减退和面型畸形的病例，该病例在极早期通过阵列比较基因组杂交（CGH）诊断为6q13q14.3缺失。诸如阵列CGH等最新的基因诊断技术可能使临床医生能够更早地诊断染色体异常并提供适当的医疗管理。

相似文献

[1]
6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation.

J Pediatr Genet. 2021-1-6

[2]
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[3]
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[4]
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[5]
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[6]
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[7]
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.

Am J Med Genet A. 2018-1

[8]
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[9]
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[10]
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引用本文的文献

[1]
The Clinical Diagnostic Utility of Array CGH in Children with Syndromic Microcephaly.

Ann Indian Acad Neurol. 2022

本文引用的文献

[1]
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.

Eur J Hum Genet. 2018-6-8

[2]
Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.

Mol Syndromol. 2017-12

[3]
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

Muscle Nerve. 2017-2

[4]
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Mol Cell Biochem. 2013-6-8

[5]
Diagnostic exome sequencing in persons with severe intellectual disability.

N Engl J Med. 2012-10-3

[6]
Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature.

Dev Med Child Neurol. 2011-3-21

[7]
Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.

J Med Genet. 2010-8-3

[8]
HTR1B as a risk profile maker in psychiatric disorders: a review through motivation and memory.

Eur J Clin Pharmacol. 2009-10-7

[9]
The floppy infant: evaluation of hypotonia.

Pediatr Rev. 2009-9

[10]
A myocardial lineage derives from Tbx18 epicardial cells.

Nature. 2008-7-3

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