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Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15‐22.1
Author(s) -
Shur Natasha,
Cowan Janet,
Wheeler Patricia G.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20093
Subject(s) - craniosynostosis , tetralogy of fallot , heart disease , medicine , pediatrics , breakpoint , heart defect , surgery , genetics , biology , chromosomal translocation , gene
We report an infant with multiple congenital anomalies, including craniosynostosis, tetralogy of Fallot variant, and limb anomalies associated with a maternal deletion of 15q15‐22.1. Only two other patients have been reported with a similar deletion, but the deletion was paternal in both cases. We review our patient's findings and compare them to previously reported individuals with similar 15q abnormalities. Our patient allows an expansion of phenotype associated with mid‐15q deletions to include severe craniosynostosis, congenital heart disease, and limb anomalies. This will assist in prenatal counseling and predicting postnatal outcome for other affected individuals. The specific breakpoints in our patient and the other patients with similar deletions may also assist in determining a critical region for suture formation. © 2003 Wiley‐Liss, Inc.