Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion

Chih-Ping Chen; Tsang-Ming Ko; Yi-Ning Su; Liang-Kai Wang; Schu-Rern Chern; Peih-Shan Wu; Yen-Ni Chen; Shin-Wen Chen; Kevin Ko; Chen-Chi Lee; Li-Feng Chen; Chien-Wen Yang; Wayseen Wang

doi:10.1016/j.tjog.2016.07.007

Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion

Taiwan J Obstet Gynecol. 2016 Oct;55(5):733-737. doi: 10.1016/j.tjog.2016.07.007.

Authors

Chih-Ping Chen¹, Tsang-Ming Ko², Yi-Ning Su³, Liang-Kai Wang⁴, Schu-Rern Chern⁵, Peih-Shan Wu⁶, Yen-Ni Chen⁴, Shin-Wen Chen⁴, Kevin Ko⁵, Chen-Chi Lee⁴, Li-Feng Chen⁴, Chien-Wen Yang⁵, 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: cpc_mmh@yahoo.com.
² Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
³ Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan; Dianthus Maternal Fetal Medicine Center, Taipei, Taiwan.
⁴ Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
⁵ Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
⁶ Gene Biodesign Co. Ltd, Taipei, Taiwan.
⁷ Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

PMID: 27751426
DOI: 10.1016/j.tjog.2016.07.007

Abstract

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a recombinant chromosome 10 in a fetus associated with a paternal pericentric inversion.

Case report: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of an advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,der(10)del(10) (q26.3)dup(10)(p11.2p15). She underwent repeat amniocentesis at 21 weeks of gestation and array comparative genomic hybridization revealed a 31.65-Mb duplication of chromosome 10p15.3-p11.22 and a 3.07-Mb deletion of chromosome 10q26.3. Prenatal ultrasound findings were unremarkable. She was referred for genetic counseling and cytogenetic analysis revealed a karyotype of 46,XY,inv(10)(p11.2q26.3) in the father and a karyotype of 46,XX in the mother. The pregnancy was subsequently terminated, and a fetus was delivered with prominent facial dysmorphism. Postnatal cytogenetic analysis of the placenta revealed a karyotype of 46,XY, rec(10)dup(10p)inv(10)(p11.2q26.3). Fluorescence in situ hybridization analysis revealed a duplication of terminal 10p and a deletion of terminal 10q in the recombinant chromosome 10. Array comparative genomic hybridization analysis of the cord blood and umbilical cord confirmed the prenatal diagnosis.

Conclusion: Prenatal diagnosis of a recombinant chromosome because of an advanced maternal age should alert the possibility of a paternal pericentric inversion.

Keywords: 10p duplication; 10q deletion; chromosome 10 inversion; rec(10)dup(10p)inv(10); recombinant chromosome 10.

MeSH terms

Adult
Amniocentesis / methods*
Chromosome Deletion
Chromosome Inversion*
Chromosomes, Human, Pair 10 / enzymology*
Chromosomes, Human, Pair 10 / genetics
Chromosomes, Human, Pair 22 / genetics*
Comparative Genomic Hybridization
Diagnosis, Differential
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Maternal Age
Pregnancy
Prenatal Diagnosis / methods*
Trisomy / genetics*