Interstitial 6q25 microdeletion syndrome, an interstitial deletion of the long arm of chromosome 6, is a rare disease presenting with characteristic features of intellectual disability, speech impairment, dysmorphic facial features, microcephaly, agenesis or dysgenesis of the corpus callosum, and multiple organ anomalies. This condition was first reported in 1975 by Milosevic and Kalicanin. Here, we describe a female child with interstitial microdeletion of 6q. A 1-month-old girl was admitted to hospital due to poor weight gain. She was the second female child of healthy nonconsanguineous parents. Her family history was negative for neurological disorders, behavioral problems, or congenital anomalies. The pregnancy was uneventful. She was born at 37 weeks of gestation via vaginal delivery and weighed 2,620 g ( 0.4 SD; Apgar, 7-8-9). She was hospitalized for 2 weeks because of meconium aspiration syndrome and was given oxygen and antibiotics. Echocardiography indicated a mild atrial septal defect. After discharge from the previous hospital, her suckling was slow. She had poor weight gain and cyanosis after vomiting. She was then admitted to the present hospital for close investigation. Physical examination indicated dysmorphic features such as sparse hair, hirsutism, long philtrum, highly arched eyebrows, low set ears, brachytelephalangy of the fifth fingers, and hypoplasia of the fifth finger nails (Fig. 1a–e). Chest examination indicated retractive breathing, inspiratory stridor, and systolic murmur on the right side of the sternum. There were no remarkable findings on abdominal, neurological, or ophthalmologic examination. Automated auditory brainstem response test indicated hearing loss. Videofluorograpy for swallowing indicated no gastroesophageal reflux, but direct flow from the oral cavity to the nasopharynx. Although no remarkable findings were observed in the oral cavity, she was unable to suck milk adequately to gain weight. Finally, she was given thickened formula through the nasogastric tube and began to gain weight. Based on her anomalies, a genetic test was conducted after obtaining consent from her parents. Given that G-banding analysis showed deletion in the long arm of chromosome 6 (Fig. 1f), array comparative genomic hybridization (CGH) was conducted. Array CGH with the SurePrint G3 CGH+SNP 4 9 180K microarray (Agilent Technologies, Santa Clara, CA, USA) showed a 10.2 Mb deletion at q25.2-q26 (position, 154242746-164462426; Human GRCh37/hg19; Fig. 1g), which contains a common chromosome region to that mentioned in previous reports. Genetic

中文翻译：

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间质性 6q25 微缺失综合征：46,XX,del(6)(q25.2q26)

间质性 6q25 微缺失综合征是 6 号染色体长臂间质性缺失，是一种罕见的疾病，具有智力障碍、语言障碍、面部畸形、小头畸形、胼胝体发育不全或发育不全以及多器官异常等特征。这种情况于 1975 年由 Milosevic 和 Kalicanin 首次报道。在这里，我们描述了一个具有 6q 间质微缺失的女童。一名 1 个月大的女孩因体重增加缓慢入院。她是健康的非血缘父母的第二个女儿。她的家族史无神经系统疾病、行为问题或先天性异常。怀孕很顺利。她在妊娠 37 周时通过阴道分娩出生，体重 2,620 克（0.4 SD；Apgar，7-8-9）。她因胎粪吸入综合征住院 2 周，并接受了氧气和抗生素治疗。超声心动图显示轻度房间隔缺损。从以前的医院出院后，她的吸奶很慢。呕吐后，她的体重增加缓慢，发绀。随后，她被送往目前的医院接受密切检查。体格检查显示畸形特征，如头发稀疏、多毛、人中长、眉毛高度拱起、耳垂低、第五指短中指和第五指指甲发育不全（图 1a-e）。胸部检查显示胸骨右侧有收缩性呼吸、吸气性喘鸣和收缩期杂音。腹部、神经或眼科检查均无明显发现。自动听觉脑干反应测试表明听力损失。吞咽荧光影像显示无胃食管反流，但直接从口腔流向鼻咽。虽然在口腔中没有观察到显着的发现，但她无法充分吸吮牛奶来增加体重。最后，她通过鼻胃管接受了加厚配方，体重开始增加。根据她的异常情况，在征得她父母同意后进行了基因检测。鉴于 G 显带分析显示 6 号染色体长臂缺失（图 1f），因此进行了阵列比较基因组杂交（CGH）。带有 SurePrint G3 CGH+SNP 4 9 180K 微阵列（Agilent Technologies，Santa Clara，CA，USA）的阵列 CGH 在 q25.2-q26（位置，154242746-164462426；人类 GRCh37/hg19；图 3）显示 10.2 Mb 缺失。1g)，其中包含与之前报告中提到的相同的染色体区域。遗传