The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization

Jennifer N Sanmann, Kari A. Casas, Jen Bevilacqua, Danielle L. Bishay, Tanner Clark, A. Zephyr Van Dyke, Patricia Crotwell Leiferman, Honey V. Reddi, Lois J Starr

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2416-2420
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number9
DOIs
StatePublished - Sep 1 2016

Fingerprint

Chromosomes, Human, Pair 6
Chromosome Duplication
Sensorineural Hearing Loss
Intellectual Disability
Hearing
Seizures
Newborn Infant
Phenotype
Trisomy 6q Chromosome 6
Autism Spectrum Disorder

Keywords

  • 6q duplication
  • 6q14q16
  • immune deficiency
  • proximal 6q duplication
  • sensorineural hearing loss

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

The first patient with tandem duplication of 6q14q16 : Molecular and phenotypic characterization. / Sanmann, Jennifer N; Casas, Kari A.; Bevilacqua, Jen; Bishay, Danielle L.; Clark, Tanner; Van Dyke, A. Zephyr; Leiferman, Patricia Crotwell; Reddi, Honey V.; Starr, Lois J.

In: American Journal of Medical Genetics, Part A, Vol. 170, No. 9, 01.09.2016, p. 2416-2420.

Research output: Contribution to journalArticle

Sanmann, JN, Casas, KA, Bevilacqua, J, Bishay, DL, Clark, T, Van Dyke, AZ, Leiferman, PC, Reddi, HV & Starr, LJ 2016, 'The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization', American Journal of Medical Genetics, Part A, vol. 170, no. 9, pp. 2416-2420. https://doi.org/10.1002/ajmg.a.37797
Sanmann, Jennifer N ; Casas, Kari A. ; Bevilacqua, Jen ; Bishay, Danielle L. ; Clark, Tanner ; Van Dyke, A. Zephyr ; Leiferman, Patricia Crotwell ; Reddi, Honey V. ; Starr, Lois J. / The first patient with tandem duplication of 6q14q16 : Molecular and phenotypic characterization. In: American Journal of Medical Genetics, Part A. 2016 ; Vol. 170, No. 9. pp. 2416-2420.
@article{d2828f5569184e4199689ae739691aee,
title = "The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization",
abstract = "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.",
keywords = "6q duplication, 6q14q16, immune deficiency, proximal 6q duplication, sensorineural hearing loss",
author = "Sanmann, {Jennifer N} and Casas, {Kari A.} and Jen Bevilacqua and Bishay, {Danielle L.} and Tanner Clark and {Van Dyke}, {A. Zephyr} and Leiferman, {Patricia Crotwell} and Reddi, {Honey V.} and Starr, {Lois J}",
year = "2016",
month = "9",
day = "1",
doi = "10.1002/ajmg.a.37797",
language = "English (US)",
volume = "170",
pages = "2416--2420",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "9",

}

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

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

UR - http://www.scopus.com/inward/record.url?scp=84978264502&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84978264502&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37797

DO - 10.1002/ajmg.a.37797

M3 - Article

C2 - 27338032

AN - SCOPUS:84978264502

VL - 170

SP - 2416

EP - 2420

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 9

ER -