title: 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).
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.
authors.affiliation: Department of Obstetrics, Center for Perinatal Medicine, Nagano Children's Hospital, Azumino, Nagano, Japan.
authors.forename: Tsuguhiro
authors.initials: T
authors.lastname: Horikoshi
authors.forename: Akihiko
authors.initials: A
authors.lastname: Kikuchi
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Tamaru
authors.forename: Kyoko
authors.initials: K
authors.lastname: Ono
authors.forename: Mariko
authors.initials: M
authors.lastname: Kita
authors.forename: Kimiyo
authors.initials: K
authors.lastname: Takagi
authors.forename: Susumu
authors.initials: S
authors.lastname: Miyashita
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kawame
authors.forename: Osamu
authors.initials: O
authors.lastname: Shimokawa
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
mesh_terms: D001699:Biometry; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis