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.
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U2 - 10.1002/ajmg.a.37116
DO - 10.1002/ajmg.a.37116
M3 - Article
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 -