Cargando…

Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray

This study examined the molecular characterization of a prenatal case with true fetal mosaicism of small supernumerary marker chromosome 16 (sSMC(16)). A 41-year-old female underwent amniocentesis at 19 weeks of gestation due to advanced maternal age. Chromosomal analysis for cultured amniocytes rev...

Descripción completa

Detalles Bibliográficos
Autores principales: Yao, Tien-Yu, Wu, Wan-Ju, Law, Kim-Seng, Lee, Mei-Hui, Chang, Shun-Ping, Lee, Dong-Jay, Lin, Wen-Hsiang, Chen, Ming, Ma, Gwo-Chin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391486/
https://www.ncbi.nlm.nih.gov/pubmed/34441391
http://dx.doi.org/10.3390/diagnostics11081457
_version_ 1783743285827731456
author Yao, Tien-Yu
Wu, Wan-Ju
Law, Kim-Seng
Lee, Mei-Hui
Chang, Shun-Ping
Lee, Dong-Jay
Lin, Wen-Hsiang
Chen, Ming
Ma, Gwo-Chin
author_facet Yao, Tien-Yu
Wu, Wan-Ju
Law, Kim-Seng
Lee, Mei-Hui
Chang, Shun-Ping
Lee, Dong-Jay
Lin, Wen-Hsiang
Chen, Ming
Ma, Gwo-Chin
author_sort Yao, Tien-Yu
collection PubMed
description This study examined the molecular characterization of a prenatal case with true fetal mosaicism of small supernumerary marker chromosome 16 (sSMC(16)). A 41-year-old female underwent amniocentesis at 19 weeks of gestation due to advanced maternal age. Chromosomal analysis for cultured amniocytes revealed a karyotype of 47,XY,+mar[4]/46,XY[16]. Spectral karyotyping and metaphase fluorescence in situ hybridization (FISH) demonstrated that the sSMC was derived from chromosome 16 (47,XY,+mar.ish der(16)(D16Z1+)[13/20]). Confined placental mosaicism was initially suspected because the prenatal ultrasound revealed a normal structure and the pregnancy was uneventful. However, interphase FISH of cord blood performed at 28 weeks of gestation showed 20% mosaicism of trisomy chromosome 16 (nuc ish(D16Z2×3)[40/200]). Chromosome microarray analysis further demonstrated 55% mosaicism of an 8.02 Mb segmental duplication at the subcentromeric region of 16p12.1p11.1 (arr[GRCh37] 16p12.1p11.1(27021975_35045499)×3[0.55]). The results demonstrated a true fetal mosaicism of sSMC(16) involving chromosome16p12.1p11.1 that is associated with chromosome 16p11.2 duplication syndrome (OMIM #614671). After non-directive genetic counseling, the couple opted for late termination of pregnancy. This case illustrated the use of multiple molecular cytogenetic tools to elucidate the origin and structure of sSMC, which is crucial for prenatal counseling, decision making, and clinical management.
format Online
Article
Text
id pubmed-8391486
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-83914862021-08-28 Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray Yao, Tien-Yu Wu, Wan-Ju Law, Kim-Seng Lee, Mei-Hui Chang, Shun-Ping Lee, Dong-Jay Lin, Wen-Hsiang Chen, Ming Ma, Gwo-Chin Diagnostics (Basel) Case Report This study examined the molecular characterization of a prenatal case with true fetal mosaicism of small supernumerary marker chromosome 16 (sSMC(16)). A 41-year-old female underwent amniocentesis at 19 weeks of gestation due to advanced maternal age. Chromosomal analysis for cultured amniocytes revealed a karyotype of 47,XY,+mar[4]/46,XY[16]. Spectral karyotyping and metaphase fluorescence in situ hybridization (FISH) demonstrated that the sSMC was derived from chromosome 16 (47,XY,+mar.ish der(16)(D16Z1+)[13/20]). Confined placental mosaicism was initially suspected because the prenatal ultrasound revealed a normal structure and the pregnancy was uneventful. However, interphase FISH of cord blood performed at 28 weeks of gestation showed 20% mosaicism of trisomy chromosome 16 (nuc ish(D16Z2×3)[40/200]). Chromosome microarray analysis further demonstrated 55% mosaicism of an 8.02 Mb segmental duplication at the subcentromeric region of 16p12.1p11.1 (arr[GRCh37] 16p12.1p11.1(27021975_35045499)×3[0.55]). The results demonstrated a true fetal mosaicism of sSMC(16) involving chromosome16p12.1p11.1 that is associated with chromosome 16p11.2 duplication syndrome (OMIM #614671). After non-directive genetic counseling, the couple opted for late termination of pregnancy. This case illustrated the use of multiple molecular cytogenetic tools to elucidate the origin and structure of sSMC, which is crucial for prenatal counseling, decision making, and clinical management. MDPI 2021-08-12 /pmc/articles/PMC8391486/ /pubmed/34441391 http://dx.doi.org/10.3390/diagnostics11081457 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Yao, Tien-Yu
Wu, Wan-Ju
Law, Kim-Seng
Lee, Mei-Hui
Chang, Shun-Ping
Lee, Dong-Jay
Lin, Wen-Hsiang
Chen, Ming
Ma, Gwo-Chin
Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray
title Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray
title_full Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray
title_fullStr Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray
title_full_unstemmed Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray
title_short Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray
title_sort prenatal diagnosis of true fetal mosaicism with small supernumerary marker chromosome derived from chromosome 16 by funipuncture and molecular cytogenetics including chromosome microarray
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391486/
https://www.ncbi.nlm.nih.gov/pubmed/34441391
http://dx.doi.org/10.3390/diagnostics11081457
work_keys_str_mv AT yaotienyu prenataldiagnosisoftruefetalmosaicismwithsmallsupernumerarymarkerchromosomederivedfromchromosome16byfunipunctureandmolecularcytogeneticsincludingchromosomemicroarray
AT wuwanju prenataldiagnosisoftruefetalmosaicismwithsmallsupernumerarymarkerchromosomederivedfromchromosome16byfunipunctureandmolecularcytogeneticsincludingchromosomemicroarray
AT lawkimseng prenataldiagnosisoftruefetalmosaicismwithsmallsupernumerarymarkerchromosomederivedfromchromosome16byfunipunctureandmolecularcytogeneticsincludingchromosomemicroarray
AT leemeihui prenataldiagnosisoftruefetalmosaicismwithsmallsupernumerarymarkerchromosomederivedfromchromosome16byfunipunctureandmolecularcytogeneticsincludingchromosomemicroarray
AT changshunping prenataldiagnosisoftruefetalmosaicismwithsmallsupernumerarymarkerchromosomederivedfromchromosome16byfunipunctureandmolecularcytogeneticsincludingchromosomemicroarray
AT leedongjay prenataldiagnosisoftruefetalmosaicismwithsmallsupernumerarymarkerchromosomederivedfromchromosome16byfunipunctureandmolecularcytogeneticsincludingchromosomemicroarray
AT linwenhsiang prenataldiagnosisoftruefetalmosaicismwithsmallsupernumerarymarkerchromosomederivedfromchromosome16byfunipunctureandmolecularcytogeneticsincludingchromosomemicroarray
AT chenming prenataldiagnosisoftruefetalmosaicismwithsmallsupernumerarymarkerchromosomederivedfromchromosome16byfunipunctureandmolecularcytogeneticsincludingchromosomemicroarray
AT magwochin prenataldiagnosisoftruefetalmosaicismwithsmallsupernumerarymarkerchromosomederivedfromchromosome16byfunipunctureandmolecularcytogeneticsincludingchromosomemicroarray