Interstitial deletions encompassing the 10q24.32q25.1 region are rare. Only three patients have been reported in literature to date. We describe a 44-year-old female with a 2.8 Mb microdeletion in 10q24.32q25.1. Clinical findings in this patient are delineated and compared to previously reported patients with (partly) overlapping microdeletions. Based on the few descriptions available in the literature, the major phenotypic features of microdeletion 10q24.32q25.1 seem to be profound developmental delay, severe intellectual disability, short stature, cleft lip and palate, multiple congenital malformations (brain, kidney and cardiac), ophthalmic problems and an increased risk to develop basal cell carcinoma. As far as we are aware, this is the first report of an adult patient with a 10q24.32q25.1 microdeletion in literature. Suggestions are made regarding the medical work-up for newly identified patients with a 10q24.32q25.1 microdeletion as well as for a possible interaction of the compound deletion of SUFU and FGF8 in midline craniofacial abnormalities.

中文翻译：

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具有罕见间质性 10q24.32q25.1 微缺失的成年女性患者的临床描述。

包含 10q24.32q25.1 区域的间质缺失很少见。迄今为止，文献中仅报道了三名患者。我们描述了一名 44 岁女性，在 10q24.32q25.1 中有 2.8 Mb 微缺失。描述了该患者的临床发现，并与先前报道的（部分）重叠微缺失患者进行了比较。根据文献中的少数描述，微缺失 10q24.32q25.1 的主要表型特征似乎是严重的发育迟缓、严重的智力障碍、身材矮小、唇裂和腭裂、多发性先天性畸形（脑、肾和心脏） 、眼科问题和患基底细胞癌的风险增加。据我们所知，这是文献中首次报道了 10q24.32q25.1 微缺失的成年患者。