Analysis of a pedigree with partial trisomy 9 and partial monosomy 13 derived from a maternal balanced t(9;13) translocation.
10.3760/cma.j.issn.1003-9406.2019.04.011
- Author:
Yanwei SHA
1
;
Libin MEI
1
;
Zhiyong JI
1
;
Xu WANG
1
;
Shaobin LIN
1
;
Lin LI
2
Author Information
1. Department of Reproductive Medicine, Xiamen Maternal and Child Health Care Hospital, Xiamen, Fujian 361000, China. Email: linlithu@163.com.
2. Central Laboratory, Beijing Obstetrics and Gynecology Hospital Affiliated to Capital Medical University, Beijing 100026, China.
- Publication Type:Case Reports
- MeSH:
Abnormalities, Multiple;
Child;
Chromosome Deletion;
Chromosomes, Human, Pair 13;
Chromosomes, Human, Pair 9;
DNA Copy Number Variations;
Humans;
Karyotyping;
Male;
Monosomy;
Pedigree;
Translocation, Genetic;
Trisomy
- From:
Chinese Journal of Medical Genetics
2019;36(4):336-339
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the nature and origin of aberrant chromosomes in a child with multiple anomalies and psychomotor retardation.
METHODS:Routine G-banding was carried out to analyze the karyotypes of the patient and his parents, and next generation sequencing for copy number variations (CNV-seq) was used for the fine mapping of the aberrant chromosomal regions.
RESULTS:The proband and his uncle exhibited psychomotor retardation, craniofacial malformation, infantile external genitalia, and concealed penis. Cytogenetic analysis indicated that the child has a 46,XYqh+,+(9),t(9;13)(q13;q12),pat,-13 karyotype. His uncle was XYqh+,+(9),t(9;13)(q13;q12)mat,-13, his father was 46,XYqh+,t(9;13)(q13;q12)mat, his grandmother was 46,XX,t(9;13)(q13;q12), and his grandfather was 46,XYqh+. The result of CNV-seq assay for the child was 46,XY,+9p(pter-p13.2,-40 Mb×3). No deletion was detected.
CONCLUSION:The partial trisomy 9 and partial monosomy 13 probably underlie the phenotypic abnormalities in the child. Combined chromosomal karyotyping and DNA sequencing can facilitate delineation of the nature and origin of the aberrant chromosomes.
