Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis

Chih-Ping Chen; Chen-Yu Chen; Schu-Rern Chern; Peih-Shan Wu; Shin-Wen Chen; Chen-Chi Lee; Li-Feng Chen; Wayseen Wang

doi:10.1016/j.tjog.2019.11.021

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis

Taiwan J Obstet Gynecol. 2020 Jan;59(1):130-134. doi: 10.1016/j.tjog.2019.11.021.

Authors

Chih-Ping Chen¹, Chen-Yu Chen², Schu-Rern Chern³, Peih-Shan Wu⁴, Shin-Wen Chen⁵, Chen-Chi Lee⁵, Li-Feng Chen⁵, Wayseen Wang⁶

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: cpc_mmh@yahoo.com.
² Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
³ Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
⁴ Gene Biodesign Co. Ltd, Taipei, Taiwan.
⁵ Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
⁶ Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

PMID: 32039781
DOI: 10.1016/j.tjog.2019.11.021

Abstract

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for ring chromosome 13 [r(13)], monosomy 13 and isodicentric ring chromosome 13 [idic r(13)] by amniocentesis.

Case report: A 24-year-old woman underwent amniocentesis at 23 weeks of gestation because of intrauterine growth restriction (IUGR) in the fetus. Amniocentesis revealed a karyotype of 46,XY,r(13)[23]/45,XY,-13[10]/46,XY,idic r(13)[2]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) on cultured amniocytes revealed the result of arr 13q11q31.3 (19,436,286-92,284,309) × 1.85, arr 13q31.3q34 (92,288,514-115,107,733) × 1 [GRCh37 (hg19)], indicating a 22.82-Mb 13q31.3-q34 deletion and a 15-20% mosaicism for 13q11-q31.3 deletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. The placental tissues had a karyotype of 46,XY,r(13)[18]/46,XY,-13,+mar[14]/45,XY,-13[8]. Polymorphic DNA marker analysis confirmed a maternal origin of the 13q deletion.

Conclusion: Fetus with mosaic r(13), monosomy 13 and idic r(13) may present IUGR on prenatal ultrasound, and fetoplacental cytogenetic discrepancy may exist under such a circumstance.

Keywords: Amniocentesis; Monosomy 13; Mosaicism; Ring chromosome 13; idic r(13).

Publication types

Case Reports

MeSH terms

Abortion, Induced
Amniocentesis / methods*
Chromosome Deletion
Chromosome Disorders / diagnosis*
Chromosome Disorders / embryology
Chromosomes, Human, Pair 13 / genetics
Comparative Genomic Hybridization
Female
Fetal Growth Retardation / diagnostic imaging*
Fetal Growth Retardation / genetics
Fetus / cytology
Humans
Karyotype
Karyotyping
Mosaicism / embryology*
Pregnancy
Ring Chromosomes
Ultrasonography, Prenatal*
Young Adult

Supplementary concepts

13q deletion syndrome
Chromosome 13 ring