Detection of mosaic 15q11.1-q11.2 deletion encompassing NBEAP1 and POTEB in a fetus with diffuse lymphangiomatosis
Chih-Ping Chen1, Kuo-Gon Wang2, Hsu-Kuang Huang3
1Department 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.
Objective:
We present cytogenetic and molecular cytogenetic diagnoses of mosaic deletion of chromosome 15q11.1-q11.2 in a fetus with diffuse lymphangiomatosis.
Case Report:
A 33-year-old woman underwent amniocentesis at 22 weeks of gestation because of fetal diffuse lymphangiomatosis involving left-side chest, abdominal cavity, thigh and vulva, and intrauterine growth restriction. Amniocentesis revealed a karyotype of 46,XX,del(15) (q11.1q11.2)[9]/46,XX[26]. The mother had a karyotype of 46,XX. The father had a karyotype of 46,XY. The parents elected to terminate the pregnancy. A 610-g female fetus was delivered at 23 weeks of gestation with large cystic lymphangioma over the left abdomen, thigh, and vulva. The umbilical cord had a karyotype of 46,XX,del(15)(q11.1q11.2)[24]/ 46,XX[16]. The placental tissue had a karyotype of 46,XX,del(15)(q11.1q11.2)[23]/ 46,XX[17]. Array comparative genomic hybridization analysis of the umbilical cord and placenta revealed a 2.42-Mb deletion of 15q11.1-q11.2 encompassing the genes of NBEAP1 and POTEB.
Conclusion:
Deletion of 15q11.1-q11.2 encompassing NBEAP1 and POTEB may be associated with diffuse lymphangiomatosis.
