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PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 3p AND PARTIAL TRISOMY 2p IN A FETUS ASSOCIATED WITH SHORTENING OF THE LONG BONES AND A SINGLE UMBILICAL ARTERY

✍ Scribed by CHIH-PING CHEN; FEN-FEN LIU; SHEAU-WEN JAN; SHUAN-PEI LIN; CHUNG-CHI LAN

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 737 KB
Volume: 16
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199603)16:3<270::aid-pd836>3.0.co;2-0

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✦ Synopsis

The prenatal and postnatal findings of a fetus with partial deletion of 3p25+pter and duplication of 2p25.3-ipter are described. The proband postnatally displayed mental and growth retardation, psychomotor delay, microcephaly, ptosis, micrognathia, a narrow palate, and cryptorchidism. All of these anomalies were consistent with those described in 3p-and partial trisomy 2p syndromes, and also frequently seen in patients with other chromosomal disorders. However, the prenatal sonograms revealed unusual shortening of the long bones, a single umbilical artery, and normal development of the skull. Our case suggests that skeletal growth retardation of the long bones may occur earlier than that of the skull in fetuses associated with chromosomal aberrations such as del(3p)/dup(2p). Shortening of the long bones and a single umbilical artery together with other abnormalities detected by prenatal ultrasound thus warrant a fetal cytogenetic study.

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