Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q

Prenatal Diagnosis
D BoehmI Bartels

Abstract

To describe the prenatal phenotype of the 11q deletion syndrome (Jacobsen syndrome) and present the molecular characterization of the deletion in the case presented. Ultrasound at 18 and 20 weeks of gestation, on a 34-year-old woman who presented for amniocentesis, revealed slow movements, oligohydramnios and dilatation of the cerebral ventricles in the fetus. Maternal and paternal ages were 34 and 38 years, respectively. Prenatal karyotyping of cultured amniotic fluid cells revealed an 11q terminal deletion, 46,XX,del(11)(q23) (Jacobsen syndrome). Real-time quantitative PCR analysis was used to identify and map the breakpoint physically to a 45-kb region located 14.5 Mb from the 11q telomere. Polymorphic DNA marker analysis showed that DNA sequences on the paternally derived chromosome are deleted. At autopsy, facial dysmorphism without major malformations was recorded. Examination of the internal organs disclosed the following abnormalities: a Meckels' diverticulum of 4-mm length, adhesion between the gall bladder and the transverse colon, and bilaterally bilobed lungs without further situs anomalies. Our case demonstrates significant phenotypic variability of Jacobsen syndrome at midtrimester pregnancy; the syndrome may be m...Continue Reading

References

Mar 31, 1997·American Journal of Medical Genetics·J D CodyR J Leach
Nov 20, 1998·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·S M McClellandJ C Dean
Mar 10, 2001·Journal of Medical Genetics·P C MainardiF D Bricarelli
Apr 11, 2003·American Journal of Medical Genetics. Part a·N BaenaUNKNOWN EUROSCAN Working Group
Feb 20, 2004·Prenatal Diagnosis·Chih-Ping ChenWayseen Wang
Jul 22, 2004·American Journal of Medical Genetics. Part a·Paul D GrossfeldChristopher Jones

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Citations

Mar 10, 2009·Orphanet Journal of Rare Diseases·Teresa MattinaPaul Grossfeld
Sep 1, 2007·European Journal of Medical Genetics·M ValdugaP Jonveaux
Jun 7, 2007·Clinical Dysmorphology·Patricia FoleyWilliam Reardon
Dec 23, 2006·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Detlef BoehmHartmut P H Neumann

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