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Taiwan J Obstet Gynecol. 2018 Dec;57(6):881-884. doi: 10.1016/j.tjog.2018.11.001.

Digynic triploidy in a fetus presenting with semilobar holoprosencephaly.

Author information

1
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
2
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.
3
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; MacKay Junior College of Medicine, Nursing, and Management, Taipei, Taiwan; MacKay Medical College, New Taipei City, Taiwan.
4
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
5
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Abstract

OBJECTIVE:

We present digynic triploidy in a fetus with semilobar holoprosencephaly (HPE).

CASE REPORT:

A 32-year-old, gravid 1, para 0, woman underwent prenatal ultrasound examination at 12 weeks of gestation, and the ultrasound showed relative macrocephaly, a small non-cystic placenta, and a fetus with absent nasal bone and semilobar HPE. The pregnancy was terminated subsequently, and a 50-g fetus was delivered with a relatively enlarged head and premaxillary agenesis. The placenta was small and non-cystic. Postnatal cytogenetic analysis of the umbilical cord revealed a karyotype of 69, XXX. Postnatal DNA marker analysis using quantitative fluorescent polymerase chain reaction assays and the polymorphic short tandem repeat markers for chromosome 18 and 20 on the placental tissues showed a diallelic pattern with a dosage of 1:2 (paternal allele to maternal allele ratio), indicating a maternal origin of the triploidy.

CONCLUSION:

Fetuses with digynic triploidy may present relative macrocephaly, semilobar HPE and a small placenta on prenatal ultrasound.

KEYWORDS:

Digynic triploidy; Semilobar holoprosencephaly

PMID:
30545546
DOI:
10.1016/j.tjog.2018.11.001
[Indexed for MEDLINE]
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