一名患有2q部分重复和11q部分缺失的患者。
A patient with partial duplication 2q and partial deficiency 11q.
作者信息
Ho C K, Henderson K C, Bowyer F P, Eilers K B, Andrews L G
机构信息
Department of Pediatrics, Medical Center of Central Georgia, Macon 31201.
出版信息
Am J Med Genet. 1987 Nov;28(3):575-9. doi: 10.1002/ajmg.1320280305.
A patient with partial duplication 2q and partial deficiency 11q is reported. The propositus was delivered at 30 weeks gestation, with a birth weight of 1,390 g. He had severe hyaline membrane disease, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing loss, and other anomalies including a short bitemporal diameter, prominent occiput, low-set ears, exophthalmos, short nose with depressed nasal root, downturned mouth corners, narrow high-arched palate, micrognathia, a deep longitudinal groove over the sacrococcygeal region, clinodactyly, and abnormal dermatoglyphics. Chromosome analysis showed the following karyotype: 46,XY,der11,t(2:11)(q32.2;q25)pat.
报告了一名患有2q部分重复和11q部分缺失的患者。先证者在妊娠30周时出生，出生体重为1390克。他患有严重的透明膜病、脑室内出血、支气管肺发育不良、肌张力减退、精神运动发育迟缓、听力丧失以及其他异常，包括双颞径短、枕部突出、耳低位、眼球突出、鼻根凹陷的短鼻、口角下垂、高拱窄腭、小颌畸形、骶尾部有深纵沟、手指弯曲以及皮纹异常。染色体分析显示以下核型：46,XY,der11,t(2:11)(q32.2;q25)pat。
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