Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.

Abstract

A fetus with lobar holoprosencephaly and lumbosacral meningomyelocele associated with duplication of the short arm of chromosome 3 is reported. The anomalies were detected on fetal ultrasound at 20 weeks' gestation and the autopsy findings correlated well with the prenatal findings. The fetal karyotype was 46,XY,der(3)del(3)(p26) dup(3)(p26p21.3). The association of holoprosencephaly with duplication 3p is well known, but to the best of our knowledge this is the first reported association of meningomyelocele with 3p duplication. These findings suggest that a gene or genes with a crucial role in central nervous system development are located on the short arm of chromosome 3.

• Authors: D Kennedy, M M Silver, E J Winsor, A Toi, J Provias, M Macha, K Precht, D H Ledbetter, D Chitayat
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 91 Issue 3 Pg. 167-70 (Mar 20 2000) ISSN: 0148-7299 [Print] United States
• PMID: 10756335 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2000 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (diagnostic imaging, genetics)
• Adult
• Chromosomes, Human, Pair 3
• Female
• Fetus
• Gestational Age
• Holoprosencephaly (diagnostic imaging, genetics)
• Humans
• Karyotyping
• Meningomyelocele (diagnostic imaging, genetics)
• Pregnancy
• Ultrasonography, Prenatal