A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. Clinical suspicion prompted genetic investigations for Silver-Russell syndrome and related disorders. SNP array analysis led to the diagnosis of an approximately 10-Mb large deletion of the long arm in chromosome 16q22.2q23.3. Interstitial deletions of 16q show a wide variability of related features; however, considering the differences in size and location of the deletions in the known patients, the phenotypic overlap is surprising. Here, we report a novel microdeletion, compare the proband with data from scientific literature and international databases, and discuss possible diagnostic implications.
Mol Syndromol

中文翻译：

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16q22.2q23.3 在具有让人联想到 Silver-Russell 综合征表型的男孩中缺失

一名 15 个月大的男孩出现生长和整体发育迟缓、喂养困难、睡眠障碍和一些轻微异常，包括前囟大、相对大头畸形和三角形脸。临床怀疑促使对 Silver-Russell 综合征和相关疾病进行基因研究。SNP 阵列分析导致染色体 16q22.2q23.3 中长臂约 10-Mb 大缺失的诊断。16q 的间质缺失显示出相关特征的广泛变异性；然而，考虑到已知患者中缺失大小和位置的差异，表型重叠令人惊讶。在这里，我们报告了一种新的微缺失，将先证者与科学文献和国际数据库的数据进行比较，并讨论可能的诊断意义。
摩尔综合症