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16号染色体短臂微缺失/微重复胎儿的分子遗传学和临床特征

Molecular Genetic and Clinical Characteristics of Fetuses With Chromosome 16 Short-Arm Microdeletions/Microduplications.

作者信息

Cai Meiying, Lin Na, Guo Nan, Huang Hailong, Fan Xiangqun, Fu Meimei, Zhang Min, Xu Liangpu

机构信息

Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.

出版信息

J Clin Lab Anal. 2024 Dec;38(24):e25132. doi: 10.1002/jcla.25132. Epub 2024 Dec 12.

DOI:10.1002/jcla.25132
PMID:39665492
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11659735/
Abstract

BACKGROUND

The short arm of chromosome 16 is highly susceptible to homologous recombination through nonallelic genes. This results in microdeletions/microduplications that can lead to neurodevelopmental disorders. However, incomplete penetrance and phenotypic diversity after birth exacerbate the uncertainty in prenatal genetic counseling.

METHODS

A total of 24,000 cases with prenatal diagnoses were retrospectively analyzed. Chromosome microarray analysis (CMA) was performed on 17,000 cases, of which 81 (0.48%) had chromosome 16 short-arm microdeletions/microduplications.

RESULTS

Of the 81 fetuses with chromosome 16 short-arm microdeletions/microduplications, 36 and 28 had 16p11.2 and 16p13.11 microdeletions/microduplications, respectively. Ten, four, and three fetuses had 16p12.2, 16p13.12p13.11, and 16p13.12p1.3 microdeletions, respectively. Among the 36 fetuses with 16p11.2 microdeletions/microduplications, 33 had abnormal intrauterine ultrasound phenotypes, the most common being skeletal system abnormalities. Among the 28 fetuses with 16p13.11 microdeletions/microduplications, 19 had abnormal intrauterine ultrasound phenotypes, including 15 with abnormal ultrasonic soft markers. Among the 10 fetuses with the 16p12.2 microdeletions, six had abnormal ultrasound findings, and four had skeletal system abnormalities. After genetic counseling, 44 patients were selected and tested for family verification, of which 22 were de novo, while 22 were inherited from phenotypically normal parents. Among the 47 live births, 39 had no abnormalities.

CONCLUSION

All fetuses with the 16p13.11 microdeletions/microduplications, and 16p12.2, 16p13.12p13.11, and 16p13.12p1.3 microdeletions were healthy after birth. Hence, chromosome 16 short-arm microdeletions/microduplications should not be the sole basis for abandoning pregnancy, and clinicians should consider prenatal diagnostic data to maximize diagnostic accuracy.

摘要

背景

16号染色体短臂极易通过非等位基因发生同源重组。这会导致微缺失/微重复，进而引发神经发育障碍。然而，出生后不完全外显率和表型多样性加剧了产前遗传咨询的不确定性。

方法

对24000例产前诊断病例进行回顾性分析。对17000例病例进行了染色体微阵列分析（CMA），其中81例（0.48%）存在16号染色体短臂微缺失/微重复。

结果

在81例16号染色体短臂微缺失/微重复的胎儿中，分别有36例和28例存在16p11.2和16p13.11微缺失/微重复。10例、4例和3例胎儿分别存在于16p12.2、16p13.12p13.11和16p13.12p1.3微缺失。在36例存在16p11.2微缺失/微重复的胎儿中，33例有异常的宫内超声表型，最常见的是骨骼系统异常。在28例存在16p13.11微缺失/微重复的胎儿中，19例有异常的宫内超声表型，包括15例有异常超声软指标。在10例存在16p12.2微缺失的胎儿中，6例有异常超声表现，4例有骨骼系统异常。经过遗传咨询，选取44例患者进行家系验证检测，其中22例为新发突变，22例从表型正常的父母遗传而来。在47例活产儿中，39例无异常。

结论

所有存在16p13.11微缺失/微重复以及16p12.2、16p13.12p13.11和16p13.12p1.3微缺失的胎儿出生后均健康。因此，16号染色体短臂微缺失/微重复不应作为放弃妊娠的唯一依据，临床医生应综合考虑产前诊断数据以提高诊断准确性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/6f1747b31e7e/JCLA-38-e25132-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/f1322157d1bb/JCLA-38-e25132-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/3b09aada819b/JCLA-38-e25132-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/b42d0d1b5d76/JCLA-38-e25132-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/f0bfd293f844/JCLA-38-e25132-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/6f1747b31e7e/JCLA-38-e25132-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/f1322157d1bb/JCLA-38-e25132-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/3b09aada819b/JCLA-38-e25132-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/b42d0d1b5d76/JCLA-38-e25132-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/f0bfd293f844/JCLA-38-e25132-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f643/11659735/6f1747b31e7e/JCLA-38-e25132-g001.jpg

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