De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.
نویسندگان
چکیده
A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not necessarily associated with craniosynostosis.
منابع مشابه
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عنوان ژورنال:
- Journal of medical genetics
دوره 26 8 شماره
صفحات -
تاریخ انتشار 1989