[Analysis of a pedigree with partial trisomy 9 and partial monosomy 13 derived from a maternal balanced t(9;13) translocation]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Apr 10;36(4):336-339
Date
04/06/2019Pubmed ID
30950020DOI
10.3760/cma.j.issn.1003-9406.2019.04.011Scopus ID
2-s2.0-85064326840 (requires institutional sign-in at Scopus site) 1 CitationAbstract
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.
Author List
Sha Y, Mei L, Ji Z, Wang X, Lin S, Li LAuthor
Ling Mei MD Associate Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleChild
Chromosome Deletion
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 9
DNA Copy Number Variations
Humans
Karyotyping
Male
Monosomy
Pedigree
Translocation, Genetic
Trisomy
