Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes

Anju Shukla, Kausik Mandal, Siddaramappa J. Patil, Yougal Kishore, Shubha R. Phadke, Katta M. Girisha

Research output: Contribution to journalArticle

Abstract

We report on a child with de novo deletions involving the 7q11.23 (Williams syndrome) and 22q11.2 (Velocardiofacial/DiGeorge syndrome) regions. We describe the clinical features of this rare double microdeletion syndrome reported here for the first time.

Original languageEnglish
Pages (from-to)1927-1931
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number8
DOIs
Publication statusPublished - 01-08-2015

Fingerprint

DiGeorge Syndrome
Williams Syndrome

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Shukla, Anju ; Mandal, Kausik ; Patil, Siddaramappa J. ; Kishore, Yougal ; Phadke, Shubha R. ; Girisha, Katta M. / Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes. In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 8. pp. 1927-1931.
@article{0919bc5781424bb996da95402a42fe05,
title = "Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes",
abstract = "We report on a child with de novo deletions involving the 7q11.23 (Williams syndrome) and 22q11.2 (Velocardiofacial/DiGeorge syndrome) regions. We describe the clinical features of this rare double microdeletion syndrome reported here for the first time.",
author = "Anju Shukla and Kausik Mandal and Patil, {Siddaramappa J.} and Yougal Kishore and Phadke, {Shubha R.} and Girisha, {Katta M.}",
year = "2015",
month = "8",
day = "1",
doi = "10.1002/ajmg.a.37116",
language = "English",
volume = "167",
pages = "1927--1931",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "8",

}

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes. / Shukla, Anju; Mandal, Kausik; Patil, Siddaramappa J.; Kishore, Yougal; Phadke, Shubha R.; Girisha, Katta M.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 8, 01.08.2015, p. 1927-1931.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes

AU - Shukla, Anju

AU - Mandal, Kausik

AU - Patil, Siddaramappa J.

AU - Kishore, Yougal

AU - Phadke, Shubha R.

AU - Girisha, Katta M.

PY - 2015/8/1

Y1 - 2015/8/1

N2 - We report on a child with de novo deletions involving the 7q11.23 (Williams syndrome) and 22q11.2 (Velocardiofacial/DiGeorge syndrome) regions. We describe the clinical features of this rare double microdeletion syndrome reported here for the first time.

AB - We report on a child with de novo deletions involving the 7q11.23 (Williams syndrome) and 22q11.2 (Velocardiofacial/DiGeorge syndrome) regions. We describe the clinical features of this rare double microdeletion syndrome reported here for the first time.

UR - http://www.scopus.com/inward/record.url?scp=84937969552&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84937969552&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37116

DO - 10.1002/ajmg.a.37116

M3 - Article

VL - 167

SP - 1927

EP - 1931

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 8

ER -