Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, and Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Sousse, Tunisia.
Gene. 2013 Apr 25;519(1):135-41. doi: 10.1016/j.gene.2013.01.017. Epub 2013 Feb 9.
Partial duplication of 11q is related to several malformations like growth retardation, intellectual disability, hypoplasia of corpus callosum, short nose, palate defects, cardiac, urinary tract abnormalities and neural tube defects. We have studied the clinical and molecular characteristics of a patient with severe intellectual disabilities, dysmorphic features, congenital inguinal hernia and congenital cerebral malformation which is referred to as cytogenetic exploration. We have used FISH and array CGH analysis for a better understanding of the double chromosomic aberration involving a 7p microdeletion along with a partial duplication of 11q due to adjacent segregation of a paternal reciprocal translocation t(7;11)(p22;q21) revealed after banding analysis. The patient's karyotype formula was: 46,XY,der(7)t(7;11)(p22;q21)pat. FISH study confirmed these rearrangement and array CGH technique showed precisely the loss of at least 140 Kb on chromosome7p22.3pter and 33.4Mb on chromosome11q22.1q25. Dysmorphic features, severe intellectual disability and brain malformations could result from the 11q22.1q25 trisomy. Our study provides an additional case for better understanding and delineating the partial duplication 11q.
11q 部分重复与多种畸形有关，如生长迟缓、智力障碍、胼胝体发育不全、短鼻、腭裂、心脏、泌尿道异常和神经管缺陷。我们研究了一位患有严重智力障碍、畸形特征、先天性腹股沟疝和先天性脑畸形的患者的临床和分子特征，这被称为细胞遗传学探索。我们使用 FISH 和 array CGH 分析更好地理解了双染色体异常，涉及 7p 微缺失和 11q 的部分重复，这是由于在带分析后揭示的父系相互易位 t(7;11)(p22;q21)的相邻分离。患者的核型公式为：46,XY,der(7)t(7;11)(p22;q21)pat。FISH 研究证实了这些重排，array CGH 技术精确显示了染色体 7p22.3pter 上至少 140 Kb 的缺失和染色体 11q22.1q25 上 33.4Mb 的缺失。11q22.1q25 的三体性可能导致畸形特征、严重智力障碍和脑畸形。我们的研究为更好地理解和描绘 11q 部分重复提供了一个额外的病例。
