基本纯6型部分三体(p21.31-p25)(病例报告及文献复习)

O. Molina-Gamboa, A. Barrios-Martínez, A. García-García, Luanda Maceira, L. Méndez-Rosado
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引用次数: 0

摘要

背景:在文献综述中,已经报道了几例6p区域重复或部分三体的患者。这些病例大多与另一条染色体的部分单体有关。有人认为6p部分三体是一种定义明确的综合征。本研究的目的:通过对6部分三体患者(p21.31-p25)的描述,将其特征与国际报道进行比较,并讨论该综合征表型的各个方面,从而更好地临床描述6p综合征。材料与方法:对患者进行详细的临床分析。通过gtg显带分析对染色体进行研究。结果:临床检查发现:前囟门小;细细的、稀疏的、非常苍白的头发,几乎是白发;非常白,半透明和薄的皮肤;眉毛和睫毛苍白而稀疏;睑裂狭窄伴睑下垂(睑下垂);鼻梁高,鼻子直,鼻孔小;低耳植入;小头症、神经发育和精神运动迟缓;中骨长,嘴唇薄,上唇几乎倒着,嘴巴小。从神经学的角度来看,有躯干张力降低和肢体张力升高的证据。这些都是6p三体综合征的典型特征。一项对患者及其父亲的细胞遗传学研究表明,6p三体是由于父亲配子发生中的相邻分离I造成的,因为父亲是6,16易位携带者。结论:由于该综合征的临床异质性,可能的关键区域难以确定。然而,这种情况应该通过分子方法来分析,以更准确地确定涉及三体的区域的范围。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Essentially pure partial trisomy 6(p21.31-p25) (case report and literature review)
Background: In reviewed literature, several patients with duplication or partial trisomy of the 6p region have been described. Most of these cases are associated with a partial monosomy of another chromosome. It has been suggested that partial trisomy 6p constitutes a well-defined syndrome. The aim of the study: To achieve a better clinical delineation of the 6p syndrome through the description of a patient with partial trisomy 6(p21.31-p25) comparing his characteristics with international reports and to discuss aspects of the phenotype of this syndrome. Materials and methods: A detailed clinical analysis of the patient’s condition was performed. The chromosomes were studied through the GTG-banding analysis. Results: On clinical examination we observed: a small anterior fontanel; fine, sparse and very pale hair, almost white hair; very white, translucent and thin skin; pale and sparse eyebrows and eyelashes; very narrow palpebral fissures with palpebral ptosis (blepharophimosis); a high nasal bridge, and straight nose with tiny nostrils; low implantation of the ears; microcephaly, neurodevelopmental and psychomotor delay; long philtrum, thin lips, the upper lip almost inverted and the mouth is small. From the neurological point of view there was evidence of trunk hypotonia and limb hypertonia. These are all typical features of trisomy 6p syndrome. A cytogenetic study of the patient and his father showed that trisomy 6p was due to an adjacent segregation I in paternal gametogenesis as the father is a 6,16-translocation carrier. Conclusion: The possible critical region is difficult to determine due to the clinical heterogeneity present in this syndrome. However, this case should be analyzed by molecular methods to determine more precisely the extent of the area involved in the trisomy.
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