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

doi:10.1002/ajmg.a.37116

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

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 language	English
Pages (from-to)	1927-1931
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	167
Issue number	8
DOIs	https://doi.org/10.1002/ajmg.a.37116
Publication status	Published - 01-08-2015

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1002/ajmg.a.37116

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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.\}",

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year = "2015",

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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.

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UR - https://www.scopus.com/pages/publications/84937969552#tab=citedBy

U2 - 10.1002/ajmg.a.37116

DO - 10.1002/ajmg.a.37116

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C2 - 25898978

AN - SCOPUS:84937969552

SN - 1552-4825

VL - 167

SP - 1927

EP - 1931

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 8

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

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