Tartaglia Edoardo, Mastrantonio Pasquale, Costa Davide, Giugliano Brunella, Porcellini Antonio, Costagliola Ciro
Department of Health Science, University of Molise, Campobasso, Italy.
Eur J Ophthalmol. 2011 May-Jun;21(3):315-9. doi: 10.5301/EJO.2010.5796.
Partial trisomy 1q42-qter is a rare chromosomal aberration. Most cases arise from de novo unbalanced translocations or from unbalanced inheritance of parental balanced rearrangements.
Descriptive case report.
A 4-year-old boy had shown an increased neck translucency at the fetal ultrasound examination performed at the 11th week of gestation. Amniocentesis, performed at the 18th week of gestation, did not demonstrate any genetic abnormality. A second fetal ultrasound examination, carried out at the 35th week of gestation, showed congenital clubfeet and hydrocephalus. At birth, clinical examination revealed congenital bilateral ventriculomegaly, bilateral congenital equinovarus clubfeet, low-set ears, plagiocephaly, micrognathia, hypertelorism, prominent forehead, broad nasal bridge, hypertonic syndrome, and inguinal hernia. Ophthalmologic consultation showed the presence of optic pit in his left eye. Genetic counseling was performed. Chromosome analysis demonstrated a partial trisomy 1q42.2-qter associated with a partial monosomy 6q27-qter. Moreover, deletions of the distal region on the long arm of chromosome 6 are frequently associated with both ocular abnormalities and several solid tumor types. Moderate mental and psychomotor retardation has occurred.
This case emphasizes the importance of scheduling a screening test for eye diseases and tumor in these patients.
1q42-qter部分三体是一种罕见的染色体畸变。大多数病例源于新发的不平衡易位或父母平衡重排的不平衡遗传。
描述性病例报告。
一名4岁男孩在妊娠11周时进行的胎儿超声检查显示颈部半透明层增厚。妊娠18周时进行的羊水穿刺未显示任何基因异常。妊娠35周时进行的第二次胎儿超声检查显示先天性马蹄内翻足和脑积水。出生时，临床检查发现先天性双侧脑室扩大、双侧先天性马蹄内翻足、低位耳、斜头畸形、小颌畸形、眼距过宽、前额突出、鼻梁宽、高渗综合征和腹股沟疝。眼科会诊显示其左眼存在视凹。进行了遗传咨询。染色体分析显示1q42.2-qter部分三体与6q27-qter部分单体相关。此外，6号染色体长臂远端区域的缺失常与眼部异常和几种实体瘤类型相关。已出现中度智力和精神运动发育迟缓。
该病例强调了为这些患者安排眼部疾病和肿瘤筛查试验的重要性。
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