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源于新型染色体结构异常非罗伯逊易位的额外衍生22号染色体：t(20;22)——病例报告

Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)-Case Report.

作者信息

Manju H C, Bevinakoppamath Supriya, Bhat Deepa, Prashant Akila, Kadandale Jayaram S, Sairam P V V Gowri

机构信息

Department of Medical Genetics, JSS Medical College, JSS Academy of Higher Education & Research, Mysuru, India.

Department of Anatomy, JSS Medical College, JSS Academy of Higher Education & Research, Mysuru, India.

出版信息

Mol Cytogenet. 2022 Mar 26;15(1):14. doi: 10.1186/s13039-022-00591-4.

DOI:10.1186/s13039-022-00591-4
PMID:35346304
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8962060/
Abstract

BACKGROUND

Maternal non-Robertsonian translocation-t(20;22)(q13;q11.2) between chromosomes 20 and 22resulting in an additional complex small supernumerary marker chromosome as derivative (22)inherited to the proband is not been reported yet.

CASE PRESENTATION

A 4 years old boy with a history of developmental delay, low set ears, and facial dysmorphism was presented to the genetic clinic. Periauricular pit, downward slanting eyes, medially flared eyebrows, downturned mouth corners, and micrognathia were observed. He had congenital heart defect with atrial septal defect (ASD), ventricular septal defect (VSD), and central nervous system (CNS) anomalies with the gross cranium. Karyotype analysis, Fluorescent in-situ hybridization analysis (FISH), and Chromosomal microarray analysis (CMA) were used to determine the chromosomal origin and segmental composition of the derivative 22 chromosome. Karyotype and FISH analyses were performed to confirm the presence of a supernumerary chromosome, and Microarray analysis was performed to rule out copy number variations in the proband's 22q11.2q12 band point. The probands' karyotype revealed the inherited der(22)t(20;22)(q13;q11.2)dmat. Parental karyotype confirmed the mother as the carrier, with balanced non-Robertsonian translocation-46,XX,t(20;22)(q13;q11.2).

CONCLUSION

The mother had a non-Robertsonian translocation t(20;22)(q13;q11.2) between chromosomes 20 and 22, which resulted in Emanuel syndrome in the proband. The most plausible explanation is 3:1 meiotic malsegregation, which results in the child inheriting derivative chromosome. The parental karyotype study aided in identifying the carrier of the supernumerary der(22), allowing future pregnancies with abnormal offspring to be avoided.

摘要

背景

20号和22号染色体之间的母体非罗伯逊易位-t(20;22)(q13;q11.2)，导致一条额外的复杂小额外标记染色体作为衍生(22)遗传给先证者，此前尚未见报道。

病例报告

一名4岁男孩因发育迟缓、低位耳和面部畸形前来遗传门诊就诊。观察到耳周凹陷、眼睛向下倾斜、眉毛内侧外扩、嘴角下垂和小颌畸形。他患有先天性心脏病，伴有房间隔缺损(ASD)、室间隔缺损(VSD)，以及中枢神经系统(CNS)异常和颅骨粗大。采用核型分析、荧光原位杂交分析(FISH)和染色体微阵列分析(CMA)来确定衍生22号染色体的染色体起源和片段组成。进行核型和FISH分析以确认额外染色体的存在，进行微阵列分析以排除先证者22q11.2q12带点的拷贝数变异。先证者的核型显示遗传的der(22)t(20;22)(q13;q11.2)dmat。父母核型证实母亲为携带者，为平衡的非罗伯逊易位-46,XX,t(20;22)(q13;q11.2)。

结论

母亲在20号和22号染色体之间存在非罗伯逊易位t(20;22)(q13;q11.2)，导致先证者患伊曼纽尔综合征。最合理的解释是3:1减数分裂错误分离，导致孩子遗传了衍生染色体。父母核型研究有助于确定额外der(22)的携带者，从而避免未来出现异常后代的妊娠。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fed0/8962060/e0d9abb1248e/13039_2022_591_Fig7_HTML.jpg
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