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目的:探讨9号染色体短臂缺失的临床表现及诊断。方法:回顾1例早产、特殊面容、喂养困难,最终诊断为9号染色体短臂缺失新生儿病例的临床资料,并复习相关文献。结果:患儿女,汉族,胎龄33周+2天,出生体重1900g。面容:三角头、眼裂小,有明显内眦褶,宽鼻梁,鼻梁上有皱纹。生后存在呼吸困难,予气管插管补充肺表面活性物质,呼吸机辅助呼吸治疗3天后呼吸好转予停用。心脏超声提示右室轻度肥厚,卵圆孔未闭。头颅超声提示:双侧脑室增宽(左侧4.2mm,右侧4.0mm),双侧脉络丛转折部增粗,脑室旁白质回声增强。患儿消化尚可,生后12天达完全胃肠内营养,停静脉营养,患儿精神反应弱,自行吸引力弱,吃奶差,需口饲喂养。患儿生后33天仍不能自行吃奶,外周血染色体回报46,XX,del(9),家属放弃治疗接患儿出院。结论:9号染色体短臂缺失存在特殊面容,存在生理和智力发育障碍,对于此类患者进行细胞遗传学检查有助于本病的准确和早期诊断。
Objective: To investigate the clinical manifestations and diagnosis of short arm loss on chromosome 9. Methods: One case of premature delivery, special face and feeding difficulty was reviewed. The clinical data of the neonatal cases with missing short arm on chromosome 9 were finally reviewed and relevant literatures were reviewed. Results: Children, Han children, gestational age 33 weeks +2 days, birth weight 1900g. Face: triangular head, small eyes, there are obvious internal fold, wide nose bridge, nose wrinkles. Respiratory dysfunction after birth, tracheal intubation to supplement pulmonary surfactant, ventilator-assisted breathing treatment for 3 days after the resumption of breathing to disable. Echocardiography prompted mild right ventricular hypertrophy, patent foramen ovale. Ultrasound Tip: Bilateral ventricular widened (left 4.2mm, right 4.0mm), bilateral choroid plexus thickening of the turn, increased periventricular white matter echo. Children digestion is acceptable, 12 days after birth up to complete gastrointestinal nutrition, venous parenteral nutrition, mental reactions in children with weak, their own weak attraction, poor feeding, need to feed. 33 days after birth, children still can not self-nurse, peripheral blood chromosome returns 46, XX, del (9), family members give up treatment of children discharged. Conclusion: There is a special face in the short arm of chromosome 9, impaired physiological and mental retardation. Cytogenetic examination of these patients will be helpful for the accurate and early diagnosis of this disease.