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

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Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy. / Jaklin, Christian; Heiliger, Katrin; Hempel, Maja; Sollacher, Doris; Cohen, Monika; Makowski, Christine C; Meitinger, Thomas; Jauch, Anna; Oexle, Konrad.

In: EUR J MED GENET, Vol. 55, No. 10, 10.2012, p. 568-72.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Jaklin, C, Heiliger, K, Hempel, M, Sollacher, D, Cohen, M, Makowski, CC, Meitinger, T, Jauch, A & Oexle, K 2012, 'Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy', EUR J MED GENET, vol. 55, no. 10, pp. 568-72. https://doi.org/10.1016/j.ejmg.2012.06.010

APA

Jaklin, C., Heiliger, K., Hempel, M., Sollacher, D., Cohen, M., Makowski, C. C., Meitinger, T., Jauch, A., & Oexle, K. (2012). Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy. EUR J MED GENET, 55(10), 568-72. https://doi.org/10.1016/j.ejmg.2012.06.010

Vancouver

Jaklin C, Heiliger K, Hempel M, Sollacher D, Cohen M, Makowski CC et al. Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy. EUR J MED GENET. 2012 Oct;55(10):568-72. https://doi.org/10.1016/j.ejmg.2012.06.010

Bibtex

@article{b19aac2cc2994968b9aa0e18eabe8c8a,
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.",
keywords = "Abnormalities, Multiple, Age of Onset, Chromosome Deletion, Chromosome Duplication, Chromosomes, Human, Pair 5, Comparative Genomic Hybridization, Counseling, Hereditary Central Nervous System Demyelinating Diseases, Humans, Infant, Lamin Type B, Male, Parents, Patient Rights, Sperm Injections, Intracytoplasmic",
author = "Christian Jaklin and Katrin Heiliger and Maja Hempel and Doris Sollacher and Monika Cohen and Makowski, {Christine C} and Thomas Meitinger and Anna Jauch and Konrad Oexle",
note = "Copyright {\textcopyright} 2012 Elsevier Masson SAS. All rights reserved.",
year = "2012",
month = oct,
doi = "10.1016/j.ejmg.2012.06.010",
language = "English",
volume = "55",
pages = "568--72",
journal = "EUR J MED GENET",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "10",

}

RIS

TY - JOUR

T1 - Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy

AU - Jaklin, Christian

AU - Heiliger, Katrin

AU - Hempel, Maja

AU - Sollacher, Doris

AU - Cohen, Monika

AU - Makowski, Christine C

AU - Meitinger, Thomas

AU - Jauch, Anna

AU - Oexle, Konrad

N1 - Copyright © 2012 Elsevier Masson SAS. All rights reserved.

PY - 2012/10

Y1 - 2012/10

N2 - 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.

AB - 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.

KW - Abnormalities, Multiple

KW - Age of Onset

KW - Chromosome Deletion

KW - Chromosome Duplication

KW - Chromosomes, Human, Pair 5

KW - Comparative Genomic Hybridization

KW - Counseling

KW - Hereditary Central Nervous System Demyelinating Diseases

KW - Humans

KW - Infant

KW - Lamin Type B

KW - Male

KW - Parents

KW - Patient Rights

KW - Sperm Injections, Intracytoplasmic

U2 - 10.1016/j.ejmg.2012.06.010

DO - 10.1016/j.ejmg.2012.06.010

M3 - SCORING: Journal article

C2 - 22776853

VL - 55

SP - 568

EP - 572

JO - EUR J MED GENET

JF - EUR J MED GENET

SN - 1769-7212

IS - 10

ER -