Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)

Tsuguhiro Horikoshi, Akihiko Kikuchi, Shunsuke Tamaru, Kyoko Ono, Mariko Kita, Kimiyo Takagi, Susumu Miyashita, Hiroshi Kawame, Osamu Shimokawa, Naoki Harada

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)

Abstract

The X-linked recessive type of chondrodysplasia punctata (CDPX1) is a skeletal disorder that is characterized by stippled calcification at an epiphyseal nucleus and the surrounding soft tissue, short stature and an unusual face because of nasal hypoplasia. In most of the patients, this condition is noted after birth because of a characteristic face or respiratory problems. Here, we report a fetus with CDPX1. Two-dimensional ultrasound examination revealed unexplained polyhydramnios and a male fetus. Fetal biometry showed shortened long bones. Three-dimensional ultrasonography clearly demonstrated a hypoplastic nose with a depressed nasal bridge and contracture of wrists and fingers. Chromosome analysis of the amniotic fluid cells revealed the 46,Y,del(X)(p22.3) karyotype. Fluorescence in situ hybridization revealed a deletion of subtelomeric sequences at the Xpter and STS gene, but not a deletion of the KAL gene. The genomic copy number analysis demonstrated terminal deletion of 8.33 Mb that included SHOX, CSF2RA, XG, ARSE, NLGN4 and STS genes. We think that our case presents typical features of a fetus with this disorder and will be of great help in prenatal ultrasound diagnosis.

Original languageEnglish
Pages (from-to)671-675
Number of pages5
JournalJournal of Obstetrics and Gynaecology Research
Volume36
Issue number3
DOIs
Publication statusPublished - 2010 Jun
Externally publishedYes

Keywords

  • ARSE
  • Contiguous gene syndrome
  • Prenatal diagnosis
  • Three-dimensional ultrasonography
  • X-linked recessive chondrodysplasia punctata

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

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