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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.
Prenat Diagn. 1996 Mar; 16(3):270-5.PD

Abstract

The prenatal and postnatal findings of a fetus with partial deletion of 3p25 -> pter and duplication of 2p25.3 -> pter 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.

Authors+Show Affiliations

Departments of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8710784

Citation

Chen, C P., et al. "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." Prenatal Diagnosis, vol. 16, no. 3, 1996, pp. 270-5.
Chen CP, Liu FF, Jan SW, et al. 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. Prenat Diagn. 1996;16(3):270-5.
Chen, C. P., Liu, F. F., Jan, S. W., Lin, S. P., & Lan, C. C. (1996). 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. Prenatal Diagnosis, 16(3), 270-5.
Chen CP, et al. 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. Prenat Diagn. 1996;16(3):270-5. PubMed PMID: 8710784.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Chen,C P, AU - Liu,F F, AU - Jan,S W, AU - Lin,S P, AU - Lan,C C, PY - 1996/3/1/pubmed PY - 2000/6/20/medline PY - 1996/3/1/entrez SP - 270 EP - 5 JF - Prenatal diagnosis JO - Prenat Diagn VL - 16 IS - 3 N2 - The prenatal and postnatal findings of a fetus with partial deletion of 3p25 -> pter and duplication of 2p25.3 -> pter 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. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/8710784/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_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0197-3851&date=1996&volume=16&issue=3&spage=270 DB - PRIME DP - Unbound Medicine ER -