一名表型异常婴儿中存在一种独特的新发间质性缺失del(17)(q21.3q23) 。
A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant.
作者信息
Park J P, Moeschler J B, Berg S Z, Bauer R M, Wurster-Hill D H
机构信息
Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, N.H. 03756.
出版信息
Clin Genet. 1992 Jan;41(1):54-6. doi: 10.1111/j.1399-0004.1992.tb03631.x.
We report on an infant with multiple congenital anomalies possessing a de novo, interstitially deleted no. 17 chromosome. The phenotype includes brachycephaly, club feet, delay of growth and development, and hypertelorism with upslanted palpebral fissures. We are unaware of other reported cases involving such interstitial deletion of 17, or of translocations involving the breakpoint regions observed in our case.
我们报告了一名患有多种先天性异常的婴儿，其17号染色体存在从头发生的间质性缺失。该表型包括短头畸形、马蹄内翻足、生长发育迟缓以及眼距过宽伴睑裂向上倾斜。我们未发现其他关于17号染色体这种间质性缺失的报道病例，也未发现涉及我们病例中观察到的断点区域的易位病例。
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