Partial monosomy of the short arm of chromosome 9 |
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| Authors: | J Deroover J P Fryns C Parloir J Haegeman H van den Berghe |
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| Institution: | (1) Division of Human Genetics, Department of Human Biology, University of Leuven, Belgium;(2) Present address: M.P.I. St. Vincentius, B-1581 Viaene, Belgium |
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| Abstract: | Summary A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germinal deletion in this case. |
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