Cryptic del/dup aberration of 60.6?Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy

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• 作者：Christian Jaklin ; Katrin Heiliger ; Maja Hempel ; Doris Sollacher ; Monika Cohen ; Christine C. Makowski ; Thomas Meitinger ; Anna Jauch ; Konrad Oexle
• 关键词：5q15-5q21.3 microdeletion ; 5q21.3-5q23.3 microduplication ; ACC ; Intellectual disability ; ICSI ; ADLD ; Lamin B1 ; Counseling ; Predictive diagnosis ; Ethics
• 刊名：European Journal of Medical Genetics
• 出版年：2012
• 出版时间：October, 2012
• 年：2012
• 卷：55
• 期：10
• 页码：568-572
• 全文大小：711 K

文摘

We report on a de novo interstitial del/dup aberration consisting of a 13.3?Mb deletion of 5q15-5q21.3 (92.1-105.4?Mb, hg19) and a 23.6?Mb tandem direct duplication of 5q21.3-5q23.3 (106.1-129.7?Mb, hg19). Although the aberration covered a total of 60.6?Mb, it was cryptic, i.e., not detectable by karyotyping at a resolution of 430 bands. Array-CGH indicated a diploid region of 0.6?Mb between the duplicated and the deleted segment. The aberration affected a 14-month-old boy conceived after intracytoplasmic sperm injection who presented with developmental delay, muscular hypotonia, partial agenesis of the corpus callosum, prominent forehead, low set ears, hypertelorism, hyperopia, wide-bridged nose, retrognathia, high palate, and cryptorchidism. The duplicated segment comprised the LMNB1 gene, thus predicting adult-onset autosomal-dominant leukodystrophy and revealing a temporal dimension of the phenotype. Counseling problems implicated by this prediction include ¡°the right not to know¡± that the patient might want to exercise when coming of age.