Craniosynostosis associated with Partial Monosomy 2q37.3 and Partial Trisomy 5q35 including MSX2
نویسندگان
چکیده
Craniosynostosis is defined as the premature closure of the cranial sutures resulting in characteristic skull deformities. It is a rather frequent craniofacial malformation estimated to affect 1 in 2500 newborns [1]. There is a great variability in both phenotype and the underlying causes. Premature synostosis of the cranial sutures can occur either isolated (non-syndromic) or as part of a Eva-Maria König1, Laura Engmann1, Wolfram Kress1, Axel Quattländer2, Tilmann Schweitzer3 and Eva Klopocki1
منابع مشابه
Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report.
We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced ...
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