15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems

von der Lippe, C.; Rustad, C.; Heimdal, K.; Rødningen, O.K.

doi:10.1016/j.ejmg.2010.12.008

Cited by 86Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases

15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems

von der Lippe, C., Rustad, C., Heimdal, K., Rødningen, O.K.·2011·European Journal of Medical Genetics

DOI 10.1016/j.ejmg.2010.12.008

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Abstract

15q11.2 microdeletion has been suggested as a new microdeletion syndrome and several patients have been described in the literature. We report seven new patients belonging to six families, age 9-24 years old, with a 350 kb 15q11.2 deletion of the four highly conserved genes (TUBGCP5, NIPA1, NIPA2 and CYFIP1) earlier reported. All our patients had some degree of learning difficulties, delayed development and/or behavioural problems. Common dysmorphic features and congenital malformations were not characteristics of our patients. The deletion was inherited from a mildly affected parent in all cases tested (5/6 families available for testing both parents). These seven new cases confirm some of the features earlier reported to be associated with 15q11.2 deletion, and help to further delineate the phenotype associated with 15q11.2 deletion.

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10/29 (35%) of individuals with the 15q11.2 BP1-BP2 microdeletion inherited their deletion from an abnormal parent.
“The review of literature from six published reports summarized by Cafferkey et al. [18] regarding information on the inheritance of the 15q11.2 BP1–BP2 microdeletion indicates that 22/43 (51%) of individuals with the microdeletion, where parental data were available, inherited their deletion from an apparently healthy parent while 10/29 (35%) of individuals inherited their deletion from an abnorma”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [34]
22/43 (51%) of individuals with the 15q11.2 BP1-BP2 microdeletion, where parental data were available, inherited their deletion from an apparently healthy parent.
“The review of literature from six published reports summarized by Cafferkey et al. [18] regarding information on the inheritance of the 15q11.2 BP1–BP2 microdeletion indicates that 22/43 (51%) of individuals with the microdeletion, where parental data were available, inherited their deletion from an apparently healthy parent while 10/29 (35%) of individuals inherited their deletion from an abnorma”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [34]

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Torticollis in 15q11.2 Microdeletion Syndrome: a Rare Association in Angelman-like Syndromes
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Copy Number Changes
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Parental Autosomal Aneuploidy
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Insertions
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Preface to Fourth Edition
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Copyright Page
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Dedication
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Preface to The First Edition
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Epigraph
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15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients
Vanlerberghe, C., Petit, F., Malan, V., Vincent‐Delorme, C., Bouquillon, S., Boute, O., Holder‐Espinasse, M., Delobel, B., Duban‐Bedu, B., Vallée, L., et al. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.01.002 · Cited by 123 · see citing works
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The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Doornbos, M., Sikkema-Raddatz, B., Ruijvenkamp, C. A. L., Dijkhuizen, T., Bijlsma, E. K., Gijsbers, A. C. J., Hilhorst-Hofstee, Y., Hordijk, R., Verbruggen, K. T., Kerstjens-Frederikse, W. S. (., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.010 · Cited by 165 · see citing works
Review The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
Cox, D. M., & Butler, M. G. (2016)

Authors: von der Lippe, C., Rustad, C., Heimdal, K., & Rødningen, O. K.
Affiliations: Oslo University Hospital (NO)
ORCID: Rustad, C.
Heimdal, K.
Venue: European Journal of Medical Genetics
Publisher: Elsevier BV
Published: 2011-05
Volume: 54
Issue: 3
Pages: 357-360
ISSN: 1769-7212 (ISSN-L)
DOI: 10.1016/j.ejmg.2010.12.008
OpenAlex: W2076894972
Cited by: 86
References: 15
Citations by year: 2026: 1 · 2025: 2 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 4 · 2020: 4 · 2019: 3 · 2018: 2 · 2017: 2 · 2016: 4 · 2015: 3 · 2014: 6 · 2013: 4 · 2012: 6
FWCI: 9.34
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: European Journal of Medical Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: microdeletion syndromes, NIPA1, CYFIP1, learning difficulties, developmental delay, behavioral problems, familial inheritance, conserved genes
MeSH terms: Abnormalities, Multiple, Adolescent, Mental Disorders, Child, Developmental Disabilities, Chromosome Deletion, Chromosomes, Human, Pair 15, Female, Humans, Learning Disabilities, Male, Membrane Proteins, Microtubule-Associated Proteins, Gene Deletion, Nucleic Acid Amplification Techniques, Chromosome Disorders, Cation Transport Proteins, Adaptor Proteins, Signal Transducing, Comparative Genomic Hybridization, Young Adult

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15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems

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