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4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report.
BMC Medical Genomics ( IF 2.7 ) Pub Date : 2020-03-03 , DOI: 10.1186/s12920-020-0697-y
Maolan Wu 1 , Xiangrong Zheng 1 , Xia Wang 1 , Guoyuan Zhang 1 , Jian Kuang 1
Affiliation  

BACKGROUND Chromosome deletions of the long arm of chromosome 4 in 4q syndrome are characterized by mild facial and digital dysmorphism, developmental delay, growth retardation, and skeletal and cardiac anomalies, which is regarded as an autism spectrum disorder. Moreover, some scarce reports indicate that patients with 4q interstitial deletion and 7p duplication may present symptoms associated with hearing loss. CASE PRESENTATION A boy with a severe developmental delay not only post-natal but also intrauterine and several dysmorphic features including microcephaly, ocular hypertelorism, exophthalmos, low-set ears, single palmar flexion crease, and overlapping toes presented discontinued cyanosis and recurrent respiratory infections. MRI, BAEP, echocardiogram and bronchoscopy revealed that he had persistent falcine sinus with a thin corpus callosum, left auditory pathway disorder, patent foramen ovale (2 mm), and tracheobronchomalacia with the right superior bronchus arising from the lateral posterior wall of the right main bronchus. Finally, the patient died with severe pneumonia at 10 months. Array CGH revealed a 23.62 Mb deletion at chromosome 4q27, arr [hg19] 4q27-q31.21 (121, 148, 089-144, 769, 263) × 1, and a 0.85 Mb duplication at chromosome 7q36.1, arr [hg19] 7q36.1-q36.2 (152, 510, 685-153, 363,5 98) × 3. It is rare for 4q syndrome cases or 7q duplications previously reported to have a hearing disorder, pulmonary dysplasia, and pulmonary arterial hypertension. CONCLUSIONS The phenotype of our patient mainly reflects the effects of haploinsufficiency of FGF2, SPATA5, NAA15, SMAD1, HHIP genes combined with a microduplication of 7q36.1.

中文翻译:

多发性畸形和听力损失患者的4q27缺失和7q36.1微复制:病例报告。

背景技术4q综合征中第4号染色体长臂的染色体缺失的特征是轻度的面部和指畸形,发育延迟,生长迟缓以及骨骼和心脏异常,这被认为是自闭症谱系障碍。此外,一些稀疏的报告表明,具有4q间质性缺失和7p复制的患者可能会出现与听力损失相关的症状。病例介绍一个男孩,不仅在出生后而且在子宫内都有严重的发育迟缓,并且还具有一些畸形的特征,包括小头畸形,眼部玻璃体肥大,眼球突出症,低落的耳朵,单手掌屈曲折痕和脚趾重叠,这些表现为不连续的发osis和反复呼吸道感染。MRI,BAEP,超声心动图和支气管镜检查显示,他患有持续性的镰状call性镰状鼻窦,左听觉通路障碍,卵圆孔未闭(2 mm)和气管支气管软化症,右上支气管由右主支气管的后壁引起。最后,患者在10个月时死于严重的肺炎。阵列CGH显示在染色体4q27,arr [hg19] 4q27-q31.21(121,148,089-144,769,263)×1处有23.62 Mb的缺失,在染色体7q36.1,arr [hg19]处有0.85 Mb的重复] 7q36.1-q36.2(152,510,685-153,363,5 98)×3。以前报道有听力障碍,肺发育不良和肺动脉高压的4q综合征病例或7q重复病例很少见。结论我们患者的表型主要反映了FGF2,SPATA5,NAA15,
更新日期:2020-04-22
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