Mosaic Isochromosome 18q: case - report

被引:0
|
作者
Munoz F, Maria Paz [1 ,2 ]
Avendano B, Isabel [1 ]
Aracena A, Mariana [3 ]
Guerrero C, Tm Ximena [3 ]
机构
[1] Ctr Referencia Salud Cordillera Oriente, Unidad Pediat, Santiago, Chile
[2] Univ Chile, Dept Pediat & Cirugia Infantil Oriente, Santiago, Chile
[3] Hosp Ninos Luis Calvo Mackenna, Unidad Genet, Santiago, Chile
来源
REVISTA CHILENA DE PEDIATRIA-CHILE | 2009年 / 80卷 / 02期
关键词
Isochromome; 18; small stature; chromosomal mosaicism; dysmorphic features;
D O I
10.4067/S0370-41062009000200008
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Background: The Isochromosome 18q and chromosome 18 short arm deletion (18p-) constitute structural anomalies that are reported with certain frequency in the literature. However, the association of both abnormalities in a patient is very uncommon. Objective: Description of a clinical case of Isochromosome 18 with emphasys in the few phenotypic manifestations. Case-report: Female infant 18 months-old, with short stature, minor dysmorphic features and a slight psychomotor developmental delay, whose chromosomal study in peripheral blood showed a chromosomal mosaicism with two cell lines: chromosome 18 long aim isoehromosome and deletion of chromosome 18 short arm. The chromosomal analysis of both parents did not show numerical neither morphological alterations. Discussion: This case illustrates the importance of requesting a karyotype in patients with small stature, dysmorphic features and/or malformations. The patient clinical features are compared with other similar cases described in the literature. The coexistence of both structural abnormalities (mosaicism) is extremely uncommon.
引用
收藏
页码:157 / 160
页数:4
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