Longitudinal report of child with de novo 16p11.2 triplication
16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above-average physical growth.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2018 |
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| Erschienen: |
2018 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:6 |
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| Enthalten in: |
Clinical case reports - 6(2018), 1 vom: 09. Jan., Seite 147-154 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Wallace, Arianne S [VerfasserIn] |
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| Links: |
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| Themen: |
16p11.2 deletion |
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| Anmerkungen: |
Date Revised 04.03.2022 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1002/ccr3.1236 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM280361734 |
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| 520 | |a 16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above-average physical growth | ||
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| 650 | 4 | |a 16p11.2 deletion | |
| 650 | 4 | |a 16p11.2 duplication | |
| 650 | 4 | |a 16p11.2 triplication | |
| 650 | 4 | |a ASD risk variant | |
| 650 | 4 | |a gene triplication | |
| 700 | 1 | |a Hudac, Caitlin M |e verfasserin |4 aut | |
| 700 | 1 | |a Steinman, Kyle J |e verfasserin |4 aut | |
| 700 | 1 | |a Peterson, Jessica L |e verfasserin |4 aut | |
| 700 | 1 | |a DesChamps, Trent D |e verfasserin |4 aut | |
| 700 | 1 | |a Duyzend, Michael H |e verfasserin |4 aut | |
| 700 | 1 | |a Nuttle, Xander |e verfasserin |4 aut | |
| 700 | 1 | |a Eichler, Evan E |e verfasserin |4 aut | |
| 700 | 1 | |a Bernier, Raphael A |e verfasserin |4 aut | |
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