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首页> 外文期刊>Journal of genetics >A study of a rare chromosomal disorder: mosaic46,XX,del(18)(p11.2)/46,XX,i(18q)
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A study of a rare chromosomal disorder: mosaic46,XX,del(18)(p11.2)/46,XX,i(18q)

机译：罕见染色体疾病的研究：mosaic46，XX，del（18）（p11.2）/ 46，XX，i（18q）

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摘要

Fissions, isochromosomes and whole arm translocations with breakpoints at or very near the centromere arising limited to chromosomes 12, 18 and X are uncommon in human clinical cytogenetics. Although, a few prenatally diagnosed cases of monosomy 18p and trisomy 18q mosaicism were reported before (Badalian et al. 1983; Sutton and Ridler 1986; Qumsiyeh et al. 1995), morphological characteristics of such syndromes are not yet fully described due to the rarity of incidence and their spontaneous termination or poor postnatal survival. Here we describe an adult patient with a rare and complex chromosomal disorder of monosomy 18p and trisomy 18q mosaicism. After initial diagnosis by method of standard cytogenetic technique, we ultimately confirmed the karyotype of mosaic 46,XX,del(18)(p11.2)/46,XX,i(18q) by fluorescence in situ hybridization (FISH). Theoretically, the clinical features of our case would be expected to be a combination of these two types of chromosomal disorders. Relevantly, syndrome of monosomy 18p, with deletion of all or part of the short arm of chromosome 18 (Grosso et al. 2005; Turleau 2008), is manifested as short stature, round face with short philtrum, palpebral ptosis, flat nasal bridge, large ears with detached pinnae, and short neck. Mental retardation and speech delay are very frequent, and intellectual deficiency is mild to moderate (Wester et al. 2006; Maranda et al. 2006; Koshy et al. 2011). Isochromosome 18q is a rare cytogenetic abnormality usually viewed as Edwards syndrome for its trisomy 18q and the similar features, the clinical characters of which are variable, and overlap with monosomy 18p(Hook et al. 1989; Turan et al. 2005; Pal et al. 2007). Interestingly, phenotypic characters of our patient were mainly consistent with those previously described in cases of monosomy 18p, while fractionally with trisomy 18q syndromes. A possible mechanism for the origin of such a mosaicism and genotype-phenotype correlations are discussed.
机译：在人类细胞遗传学中，分裂，等染色体和全臂易位，其中心点处或附近的断裂点仅限于染色体12、18和X。尽管以前曾报道过一些产前诊断的18p和18q三体性镶嵌症病例（Badalian等人1983; Sutton和Ridler 1986; Qumsiyeh等人1995），但由于罕见，此类综合征的形态特征尚未完全描述。发生率及其自发终止或较差的出生后生存率。在这里，我们描述了一个成年人，患有罕见和复杂的18p单体性和18q三体性镶嵌症。通过标准的细胞遗传学技术初步诊断后，我们通过荧光原位杂交（FISH）最终确定了镶嵌46，XX，del（18）（p11.2）/ 46，XX，i（18q）的核型。从理论上讲，我们病例的临床特征是这两种染色体疾病的组合。与此相关的是，单核18p综合征伴有18号染色体的短臂的全部或部分缺失（Grosso等人2005; Turleau 2008），表现为身材矮小，圆脸，短腓骨，睑下垂，鼻梁平坦，耳朵大，耳垂分离，脖子短。智力低下和言语延迟非常频繁，智力缺陷为轻度至中度（Wester等人2006; Maranda等人2006; Koshy等人2011）。 Isochromosome 18q是一种罕见的细胞遗传学异常，通常因其三体性18q和类似特征而被视为Edwards综合征，其临床特征是可变的，并且与18p单体性重叠（Hook等人1989; Turan等人2005; Pal等人（2007年）。有趣的是，我们患者的表型特征主要与先前描述的18p单体性病例相符，而部分与18s三体性综合征相符。讨论了这种镶嵌和基因型-表型相关性起源的可能机制。

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