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

Christian Jaklin, Katrin Heiliger, Maja Hempel, Doris Sollacher, Monika Cohen, Christine C. Makowski, Thomas Meitinger, Anna Jauch, Konrad Oexle

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)568-572
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume55
Issue number10
DOIs
StatePublished - Oct 2012
Externally publishedYes

Keywords

  • 5q15-5q21.3 microdeletion
  • 5q21.3-5q23.3 microduplication
  • ACC
  • ADLD
  • Counseling
  • Ethics
  • ICSI
  • Intellectual disability
  • Lamin B1
  • Predictive diagnosis

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