Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication

被引：2
|
作者：
Badar, Sidrah A. [1 ]
Breman, Amy M. [2 ]
Christensen, Celanie K. [1 ,3 ]
Graham, Brett H. [2 ]
Golomb, Meredith R. [1 ]
机构：
[1] Indiana Univ Sch Med, Div Child Neurol, Dept Neurol, Indianapolis, IN 46204 USA
[2] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA
[3] Indiana Univ Sch Med, Div Dev Med, Dept Pediat, Indianapolis, IN 46204 USA
来源：
CYTOGENETIC AND GENOME RESEARCH | 2022年 / 162卷 / 1-2期
关键词：
16p11; 2; triplication; CNVs; Biparental inheritance; Developmental delay; MICRODELETION;
D O I：
10.1159/000521297
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
The 16p11.2 duplication is a well-known cause of developmental delay and autism, but there are only 2 previously reported cases of 16p11.2 triplication. Both of the previously reported cases exhibited tandem triplication on a 16p11.2 duplication inherited from 1 parent. We report fraternal twins presenting with developmental delay and 16p11.2 triplication resulting from inheritance of a 16p11.2 duplicated homolog from each parent. This report also reviews the overlapping features in previously published cases of 16p11.2 triplication, and possible implications are discussed.
引用
收藏
页码：40 / 45
页数：6
相关论文
共 50 条
  • [1] Sensory processing in 16p11.2 deletion and 16p11.2 duplication
    Smith, Harriet
    Lane, Chloe
    Al-Jawahiri, Reem
    Freeth, Megan
    AUTISM RESEARCH, 2022, 15 (11) : 2081 - 2098
  • [2] 16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
    John C K Barber
    Victoria Hall
    Viv K Maloney
    Shuwen Huang
    Angharad M Roberts
    Angela F Brady
    Nicki Foulds
    Beverley Bewes
    Marianne Volleth
    Thomas Liehr
    Karl Mehnert
    Mark Bateman
    Helen White
    European Journal of Human Genetics, 2013, 21 : 182 - 189
  • [3] Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication
    Matsuzaki, Junko
    Berman, Jeffrey, I
    Blaskey, Lisa
    Kuschner, Emily S.
    Gaetz, Leah
    Mukherjee, Pratik
    Buckner, Randy L.
    Nagarajan, Srikantan S.
    Chung, Wendy K.
    Sherr, Elliott H.
    Roberts, Timothy P. L.
    BIOLOGICAL PSYCHIATRY-COGNITIVE NEUROSCIENCE AND NEUROIMAGING, 2020, 5 (10) : 942 - 950
  • [4] Autonomic failure associated with 16p11.2 duplication in two siblings
    Denkensohn, Cole P.
    Cook, Glen A.
    CLINICAL AUTONOMIC RESEARCH, 2024, 34 (06) : 603 - 605
  • [5] Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
    Ueda, Keisuke
    Shinawi, Marwan
    Pearson, Toni S.
    NEUROLOGY-GENETICS, 2021, 7 (01)
  • [6] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
    LeeAnne Green Snyder
    Debra D’Angelo
    Qixuan Chen
    Raphael Bernier
    Robin P. Goin-Kochel
    Arianne Stevens Wallace
    Jennifer Gerdts
    Stephen Kanne
    Leandra Berry
    Lisa Blaskey
    Emily Kuschner
    Timothy Roberts
    Elliot Sherr
    Christa L. Martin
    David H. Ledbetter
    John E. Spiro
    Wendy K. Chung
    Ellen Hanson
    Journal of Autism and Developmental Disorders, 2016, 46 : 2734 - 2748
  • [7] 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
    Barber, John C. K.
    Hall, Victoria
    Maloney, Viv K.
    Huang, Shuwen
    Roberts, Angharad M.
    Brady, Angela F.
    Foulds, Nicki
    Bewes, Beverley
    Volleth, Marianne
    Liehr, Thomas
    Mehnert, Karl
    Bateman, Mark
    White, Helen
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (02) : 182 - 189
  • [8] Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication
    Jenkins, Julian, III
    Chow, Vivian
    Blaskey, Lisa
    Kuschner, Emily
    Qasmieh, Saba
    Gaetz, Leah
    Edgar, J. Christopher
    Mukherjee, Pratik
    Buckner, Randall
    Nagarajan, Srikantan S.
    Chung, Wendy K.
    Spiro, John E.
    Sherr, Elliott H.
    Berman, Jeffrey I.
    Roberts, Timothy P. L.
    CEREBRAL CORTEX, 2016, 26 (05) : 1957 - 1964
  • [9] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
    Snyder, LeeAnne Green
    D'Angelo, Debra
    Chen, Qixuan
    Bernier, Raphael
    Goin-Kochel, Robin P.
    Wallace, Arianne Stevens
    Gerdts, Jennifer
    Kanne, Stephen
    Berry, Leandra
    Blaskey, Lisa
    Kuschner, Emily
    Roberts, Timothy
    Sherr, Elliot
    Martin, Christa L.
    Ledbetter, David H.
    Spiro, John E.
    Chung, Wendy K.
    Hanson, Ellen
    JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2016, 46 (08) : 2734 - 2748
  • [10] Language characterization in 16p11.2 deletion and duplication syndromes
    Kim, So Hyun
    Green-Snyder, LeeAnne
    Lord, Catherine
    Bishop, Somer
    Steinman, Kyle J.
    Bernier, Raphael
    Hanson, Ellen
    Goin-Kochel, Robin P.
    Chung, Wendy K.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2020, 183 (06) : 380 - 391
12345