A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21 |
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| Authors: | T. Motegi M. Ohuchi C. Ohtaki K. Fujiwara S. Enomoto T. Hasegawa K. Kishi H. Hayakawa |
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| Affiliation: | (1) Department of Pediatrics, Tokyo University Hospital Branch, 3-28-6 Meiirodai, Bunkyo-ku, 112 Tokyo, Japan;(2) Aovama Hospital attached to Tokyo Metropolitan M.B. Assoc., Tokyo, Japan;(3) Department of Neurosurgery, Tokyo Metropolitan Bokuto Hospital, Tokyo, Japan;(4) National Rehabilitation Center for Disabled Children, Tokyo, Japan;(5) Clinical Research Institute, National Medical Center, Tokyo, Japan;(6) Department of Health Science, School of Health Sciences, Kyorin University, Tokyo, Japan |
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| Abstract: | Summary A tiny interstitial delection of 7p was found in a 5-month-old boy with a craniosynostosis and many anomalies. His karyotype was 46,XY,del(7)(p15.3p21.3). Here we present not only further evidence of an association between craniosynostosis and 7p monosomy, but also deletion mapping to indicate that the critical segment for craniosynostosis lies in the mid-portion of 7p21, that is at 7p21.2 or the proximal part of 7p21.3. |
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