染色体1p32-p31缺失综合征1例报告并文献复习

Chromosome 1p32-p31 deletion syndrome:a case report and literature review

目的探讨染色体1p32-p31缺失综合征的的临床特征。方法回顾分析1例染色体1p32-p31缺失综合征患儿的临床资料,并复习相关文献。结果患儿,男,6个月,出生胎龄39^(+2)周,出生体质量2.2 kg,出生时有轻度窒息,生后发育落后。患儿面容特殊,前额及后枕突出、眼距宽、眼裂小、双侧耳位低、低鼻梁、小鼻、唇薄、下颌小、高腭弓,右侧睾丸未降至阴囊,左侧阴囊积液,手指、足趾短小,四肢肌张力稍低。Gesell发育量表评估发育商46。头颅MRI示脑白质比例偏少,双侧侧脑室增宽,胼胝体后部纤细。脑电图示清醒背景较同龄儿略慢。脑干听觉诱发电位示左侧反应阈65 dB,右侧反应阈40 dB。高通量DNA测序发现患儿1p32.3-p31.3区域(chr1:54560001-66400000,hg19)存在缺失,缺失片段大小为11.84 Mb,包含NFIA基因在内的多个基因。确诊为染色体1p32-p31缺失综合征。结论染色体1p32-p31缺失综合征的临床特征包括胼胝体发育不良、脑室扩大/脑积水、巨头、特殊面容、不同程度发育迟缓,部分伴泌尿系统异常。NFIA基因是导致该病的关键基因。

Objective To explore the clinical features of chromosome 1p32-p31 deletion syndrome.Method The clinical data of chromosome 1p32-p31 deletion syndrome in a child were retrospectively analyzed,and related literature was reviewed.Results A 6-month-old boy with gestational age of 39+2 weeks and birth weight of 2.2 kg,suffered from mild asphyxia at birth and development retardation after birth.The child had special facial features including prominent forehead and occiput,telecanthus,narrow palpebral fissures,low set ears,laigh nose bridge,small nose,thin lip,small chin and high palate.Furthermore,he had right undescended testis,hydrocele of left testis,short fingers and toes,and slightly lower muscle tension of the limbs.Gesell development scale demonstrated that the child had moderate global developmental delay with a full scale score of 46.The Brain MRI showed less white matter,widened bilateral lateral ventricles,and the slender posterior part of the corpus callosum.EEG displayed slightly slower background rhythm than that of health children with the same age.Brainstem auditory evoked potentials showed response threshold of 65 dB in left ear and 40 dB in right ear.High-throughput DNA sequencing revealed an 11.84 Mb deletion in the 1p32.3-p31.3 region(chr1:54560001-66400000,hg19),containing multiple genes including the NFIA gene.Conclusion Clinical features of chromosome 1p32-p31 deletion syndrome include hypoplastic corpus callosum,ventriculomegaly or hydrocephalus,macrocephaly,facial dysmorphisms,different degrees of developmental retardation,and some have urinary system abnormalities.The NFIA gene is a key gene responsible for the disease.