Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

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• 作者：Angelo Valetto^a ; ^{a.valetto@ao-pisa.toscana.it} ; Alessandro Orsini^b ; Veronica Bertini^a ; Benedetta Toschi^a ; Alice Bonuccelli^b ; Francesca Simi^b ; Irene Sammartino^b ; Grazia Taddeucci^b ; Paolo Simi^a ; ¹ ; Giuseppe Saggese^b ; ¹
• 关键词：Epilepsy ; FISH ; Array CGH ; Chromosomal imbalance ; Deletion 21q22 ; DYRK1 ; KCNJ6
• 刊名：European Journal of Medical Genetics
• 出版年：2012
• 期刊代码：118_17697212
• 类别：med
• 出版时间：May, 2012
• 卷：55
• 期：5
• 页码：362-366
• 文件大小：624 K

摘要

We report on a de novo interstitial deletion of chromosome 21q in a patient presenting with characteristic facial features, intellectual disability, and epilepsy. The deletion extent was about 4.9聽Mb from position 37713441 bp (21q22.13) to position 42665162 bp (21q22.3) (NCBI36/hg18 map).

Patients with partial monosomy 21 are quite rare; this anomaly has been associated with a wide spectrum of clinical signs, ranging from very mild to quite severe phenotypes. This variability results from variability in the deleted regions, thus accurate molecular definition of the chromosomal breakpoints is necessary to make better genotype-phenotype correlations.

We compared our patient's phenotype with the few other patients reported in the literature and found to have similar deletion when analyzed by array CGH. The minimal overlapping region contains only two genes, DYRK1A and KCNJ6, which may play a major role in these patients' phenotype.