TY - JOUR
T1 - The first patient with tandem duplication of 6q14q16
T2 - Molecular and phenotypic characterization
AU - Sanmann, Jennifer N.
AU - Casas, Kari A.
AU - Bevilacqua, Jen
AU - Bishay, Danielle L.
AU - Clark, Tanner
AU - Van Dyke, A. Zephyr
AU - Leiferman, Patricia Crotwell
AU - Reddi, Honey V.
AU - Starr, Lois J.
N1 - Publisher Copyright:
© 2016 Wiley Periodicals, Inc.
PY - 2016/9/1
Y1 - 2016/9/1
N2 - Duplications of the long arm of chromosome 6 have been previously reported in a limited number of patients; however, most reported duplications encompass regions of chromosome 6 distal to band q21. Duplications restricted to the proximal portion of 6q are rare. We report an 8-year-old male with a 16.4 megabase (Mb) tandem duplication of chromosome 6q14.1q16.1 (chr6:78950191-95395865; hg19) who exhibited dysmorphic facial features, seizures, global developmental delay, intellectual disability, autism spectrum disorder, sensorineural hearing loss, and immune deficiency. This patient refines and potentially expands the current, poorly-characterized phenotype associated with duplication of this proximal 6q region. We recommend a low threshold for a hearing evaluation beyond newborn screening and for pursuing an immune work-up in patients with similar 6q duplications.
AB - Duplications of the long arm of chromosome 6 have been previously reported in a limited number of patients; however, most reported duplications encompass regions of chromosome 6 distal to band q21. Duplications restricted to the proximal portion of 6q are rare. We report an 8-year-old male with a 16.4 megabase (Mb) tandem duplication of chromosome 6q14.1q16.1 (chr6:78950191-95395865; hg19) who exhibited dysmorphic facial features, seizures, global developmental delay, intellectual disability, autism spectrum disorder, sensorineural hearing loss, and immune deficiency. This patient refines and potentially expands the current, poorly-characterized phenotype associated with duplication of this proximal 6q region. We recommend a low threshold for a hearing evaluation beyond newborn screening and for pursuing an immune work-up in patients with similar 6q duplications.
KW - 6q duplication
KW - 6q14q16
KW - immune deficiency
KW - proximal 6q duplication
KW - sensorineural hearing loss
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U2 - 10.1002/ajmg.a.37797
DO - 10.1002/ajmg.a.37797
M3 - Article
C2 - 27338032
AN - SCOPUS:84978264502
SN - 1552-4825
VL - 170
SP - 2416
EP - 2420
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -