title: Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy.
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.
authors: Institut für Humangenetik, Klinikum rechts der Isar, TU München, Trogerstr. 32, 81675 München, Germany.
authors: Christian
authors: C
authors: Jaklin
authors: Katrin
authors: K
authors: Heiliger
authors: Maja
authors: M
authors: Hempel
authors: Doris
authors: D
authors: Sollacher
authors: Monika
authors: M
authors: Cohen
authors: Christine C
authors: CC
authors: Makowski
authors: Thomas
authors: T
authors: Meitinger
authors: Anna
authors: A
authors: Jauch
authors: Konrad
authors: K
authors: Oexle
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D017668:Age of Onset; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003376:Counseling / Q000941:ethics; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics*; D006801:Humans; D007223:Infant; D034921:Lamin Type B / Q000235:genetics; D008297:Male; D010290:Parents; D028701:Patient Rights; D020554:Sperm Injections, Intracytoplasmic / Q000009:adverse effects
chemical_list: D034921:Lamin Type B