Genetic analysis of a case with Pierre-Robin sequence due to partial 1q trisomy and partial 4q monosomy.
10.3760/cma.j.cn511374-20200310-00149
- VernacularTitle:一例1q部分三体4q部分单体导致Pierre Robin序列征的遗传学分析
- Author:
Qiuyan ZHANG
1
,
2
;
Shanshan GAO
;
Li WANG
;
Panlai SHI
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@
2. net.
- Publication Type:Journal Article
- MeSH:
Child;
Comparative Genomic Hybridization;
Female;
Humans;
In Situ Hybridization, Fluorescence;
Infant, Newborn;
Male;
Monosomy;
Pierre Robin Syndrome/genetics*;
Translocation, Genetic;
Trisomy/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(4):369-372
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a neonate with Pierre-Robin sequence.
METHODS:The child was subjected to chromosomal karyotyping, single nucleotide polymorphism array (SNP-array)-based comparative genomic hybridization and fluorescence in situ hybridization (FISH) analysis.
RESULTS:The child has featured microgthnia, glossoptosis, upper airway obstruction, mandible dehiscence and short neck. He was found to have a karyotype of 46,XY,der(4)add(4)(q34). Her mother's karyotype was determined as 46,XX,t(1;4)(q43;q34), while his father was 46,XY. SNP-array analysis suggested the child to be arr [hg19] 1q42.2q44 (232 527 958-249 202 755)× 3; 4q34.3q35.2 (168 236 901-190 880 409)× 1. The result of SNP-array for both parents was normal. FISH analysis confirmed that his mother has carried a balanced t(1;4)(q42;34) translocation. The aberrant chromosome 4 in the child has derived from his mother's translocation, which gave rise to partial 1q trisomy and 4q monosomy.
CONCLUSION:The 1q42.2q44 duplication and 4q34.3q35.2 deletion of the child probably underlay his abnormal phenotype of Pierre-Robin sequence.
