Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 3

Chih-Ping Chen; Tsang-Ming Ko; Chen-Yu Chen; Schu-Rern Chern; Peih-Shan Wu; Shin-Wen Chen; Fang-Tzu Wu; Chen-Wen Pan; Wayseen Wang

doi:10.1016/j.tjog.2019.09.023

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 3

Taiwan J Obstet Gynecol. 2019 Nov;58(6):864-868. doi: 10.1016/j.tjog.2019.09.023.

Authors

Chih-Ping Chen¹, Tsang-Ming Ko², Chen-Yu Chen³, Schu-Rern Chern⁴, Peih-Shan Wu⁵, Shin-Wen Chen⁶, Fang-Tzu Wu⁶, Chen-Wen Pan⁶, Wayseen Wang⁷

Affiliations

¹ Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: [email protected].
² Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
³ Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
⁴ Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
⁵ Gene Biodesign Co. Ltd, Taipei, Taiwan.
⁶ Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
⁷ Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

PMID: 31759544
DOI: 10.1016/j.tjog.2019.09.023

Abstract

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 3.

Case report: A 36-year-old woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[6]/46,XX[18]. The mother's karyotype was 47,XX,+mar[4]/46,XX[46]. The father's karyotype was 46.XY. Array comparative genomic hybridization (aCGH) analysis of uncultured amniocytes revealed a result of arr 3q11.1q12.1 (93,575,285-98,956,687) × 2-3 [GRCh37 (hg19)]. Prenatal ultrasound findings were unremarkable. The parents elected to continue the pregnancy, and a 2470-g female baby was delivered at 37 weeks of gestation without phenotypic abnormalities. The cord blood had a karyotype of 47,XX,+mar[8]/46,XX[32]. aCGH analysis of cord blood revealed a result of arr 3q11.1q11.2 (93,649,973-97,137,764) × 2.4 [GRCh37 (hg19)] with a log2 ratio of 0.25 and a 30-40% mosaicism for 3.488-Mb dosage increase in 3q11.1-q11.2 encompassing four [Online Mendelian Inheritance in Man (OMIM)] genes of PROS1, ARL13B, NSUN3 and EPHA6. Metaphase fluorescence in situ hybridization (FISH) analysis confirmed 30% (6/20 cells) mosaicism for the sSMC(3) in the blood lymphocytes.

Conclusion: aCGH and FISH analyses are useful for perinatal investigation of a prenatally detected sSMC.

Keywords: Chromosome 3; FISH; Prenatal diagnosis; Small supernumerary marker chromosome; aCGH.

Publication types

Case Reports

MeSH terms

Adult
Amniocentesis / methods*
Chromosome Disorders / diagnosis*
Chromosome Disorders / genetics
Chromosomes, Human, Pair 3 / genetics*
Comparative Genomic Hybridization
Female
Fetal Diseases / diagnosis*
Fetal Diseases / genetics
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Mosaicism*
Pregnancy
Prenatal Diagnosis / methods*