Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound.

Abstract

OBJECTIVE:

We present prenatal diagnosis of a 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction (IUGR) on prenatal ultrasound.

CASE REPORT:

A 30-year-old, gravida 3, para 2, woman was referred to the hospital for amniocentesis because of fetal ventriculomegaly on prenatal ultrasound. Her husband was 31 years old. The couple had two healthy daughters, and there was no family history of mental disorders and congenital malformations. Amniocentesis revealed a karyotype of 46,XX. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed a 451.89-kb 15q11.2 microdeletion or arr 15q11.2 (22,765,628-23,217,514) × 1.0 [GRCh37 (hg19)] encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1. The parental karyotypes were normal. aCGH analysis on the DNAs extracted from parental bloods revealed a 402-kb 15q11.2 microdeletion or arr 15q11.2 (22,815,577-23,217,514) × 1.0 (hg19) encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in the phenotypically normal father. The mother did not have any genomic imbalance. Level II ultrasound at 21 weeks of gestation revealed microcephaly and IUGR. The parents elected to terminate the pregnancy at 22 weeks of gestation, and a female fetus was delivered with a body weight of 448 g (10th centile) and a body length of 26 cm (3rd-10th centile) but no gross abnormalities.

CONCLUSION:

Fetuses with a 15q11.2 (BP1-BP2) microdeletion may present ventriculomegaly, microcephaly and IUGR on prenatal ultrasound, and aCGH is helpful for prenatal diagnosis under such a circumstance.

• Authors: Chih-Ping Chen, Shu-Yuan Chang, Liang-Kai Wang, Tung-Yao Chang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Dai-Dyi Town, Li-Feng Chen, Wayseen Wang
• Journal: Taiwanese journal of obstetrics & gynecology (Taiwan J Obstet Gynecol) Vol. 57 Issue 5 Pg. 730-733 (Oct 2018) ISSN: 1875-6263 [Electronic] China (Republic : 1949- )
• PMID: 30342661 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2018. Published by Elsevier B.V.

Chemical References

• Adaptor Proteins, Signal Transducing
• CYFIP1 protein, human
• Cation Transport Proteins
• Membrane Proteins
• Microtubule-Associated Proteins
• NIPA1 protein, human
• NIPA2 protein, human
• TUBGCP5 protein, human

Topics

• Adaptor Proteins, Signal Transducing (genetics)
• Adult
• Amniocentesis
• Cation Transport Proteins
• Chromosome Aberrations
• Chromosome Deletion
• Chromosomes, Human, Pair 15 (genetics)
• Female
• Fetal Growth Retardation (genetics)
• Humans
• Hydrocephalus (diagnostic imaging)
• Intellectual Disability (genetics)
• Karyotyping
• Male
• Membrane Proteins (genetics)
• Microcephaly (genetics)
• Microtubule-Associated Proteins (genetics)
• Pregnancy
• Prenatal Diagnosis (methods)
• Ultrasonography, Prenatal