Publisher： John Wiley & Sons Inc
E-ISSN： 1552-4833|167|4|862-865
ISSN： 1552-4825
Source： American Journal Of Medical Genetics Part A, Vol.167, Iss.4, 2015-04, pp. : 862-865
Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.
Abstract
9q22.3 microdeletion syndrome is a well‐described contiguous deletion syndrome with features of Gorlin syndrome and other manifestations. Commonly reported findings in addition to those of Gorlin syndrome include metopic craniosynostosis, hydrocephalus, intellectual disability, and minor facial anomalies. The critical region for this condition was found to include the PTCH1 and FANCC genes; however, other genes are often deleted in affected individuals but their role in the observed phenotype is not understood. Fewer than 50 individuals with 9q22.3 microdeletion have been reported, all diagnosed postnatally on the basis of the phenotype. A confirmed prenatal diagnosis and accompanying fetal imaging has not been reported to date. We describe a patient with prenatally diagnosed 9q22.3 microdeletion syndrome following the ultrasonographic identification of trigonocephaly, macrosomia, organomegaly, ventriculomegaly, and anomalous vertebrae. © 2015 Wiley Periodicals, Inc.
Related content
Access to resources
Recommend
By Coppinger Justine McDonald-McGinn Donna Zackai Elaine Shane Kate Atkin Joan F. Asamoah Alexander Leland Robert Weaver David D. Lansky-Shafer Susan Schmidt Karen Feldman Heidi Cohen William Phalin Judy Powell Berkley Ballif Blake C. Theisen Aaron Geiger Elizabeth Haldeman-Englert Chad Shaikh Tamim H. Saitta Sulagna Bejjani Bassem A. Shaffer Lisa G.
Human Molecular Genetics, Vol. 18, Iss. 8, 2009-04 ,pp. :
Characterization of a recurrent 15q24 microdeletion syndrome
By Sharp Andrew J. Selzer Rebecca R. Veltman Joris A. Gimelli Stefania Gimelli Giorgio Striano Pasquale Coppola Antonietta Regan Regina Price Sue M. Knoers Nine V. Eis Peggy S. Brunner Han G. Hennekam Raoul C. Knight Samantha J.L. de Vries Bert B.A. Zuffardi Orsetta Eichler Evan E.
Human Molecular Genetics, Vol. 16, Iss. 5, 2007-03 ,pp. :