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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)
Author(s) -
Horikoshi Tsuguhiro,
Kikuchi Akihiko,
Tamaru Shunsuke,
Ono Kyoko,
Kita Mariko,
Takagi Kimiyo,
Miyashita Susumu,
Kawame Hiroshi,
Shimokawa Osamu,
Harada Naoki
Publication year - 2010
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/j.1447-0756.2010.01193.x
Subject(s) - chondrodysplasia punctata , medicine , fetus , polyhydramnios , prenatal diagnosis , short stature , anatomy , skeletal disorder , fluorescence in situ hybridization , karyotype , pathology , genetics , chromosome , gene , biology , endocrinology , pregnancy , osteoporosis
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.