Mild phenotypic manifestation of a 7p15.3p21.2 deletion.
نویسندگان
چکیده
A 28 month old girl with dysmorphic features was found to have an interstitial deletion of the short arm of chromosome 7p15.3-7p21.2. The patient had ptosis, dacryostenosis, pectus excavatum, short hands, and her development was normal or mildly delayed. Craniosynostosis and growth retardation, which were present in two other patients with similar deletions, were not present. Because of the mild manifestations, this case expands the clinical spectrum of the 7p15-7p21 deletion phenotype.
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عنوان ژورنال:
- Journal of medical genetics
دوره 30 7 شماره
صفحات -
تاریخ انتشار 1993