Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes

被引：3
|
作者：
Fernandez, Luis [1 ,2 ]
Nevado, Julian [1 ,2 ]
De Torres, Maria L. [1 ,2 ]
Mansilla, Elena [1 ,2 ]
Vallespin, Elena [1 ,2 ]
Garcia-Minaur, Sixto [1 ,2 ]
Palomo, Rebeca [1 ,2 ]
Deiros, Lucia [3 ]
Cabrera, Marta [4 ]
Dina Galo, Elia [5 ]
Lapunzina, Pablo [1 ,2 ]
Delicado, Alicia [1 ,2 ]
机构：
[1] Univ Autonoma Madrid, Inst Genet Med & Mol INGEMM, IdiPAZ, Hosp Univ La Paz, Madrid 28046, Spain
[2] ISCIII, CIBER Enfermedades Raras CIBERER, Madrid, Spain
[3] Hosp Univ La Paz, Serv Cardiol Infantil, Madrid, Spain
[4] Hosp Univ La Paz, Serv Neonatol, Madrid, Spain
[5] Univ Nacl Autonoma Nicaragua, Leon, Spain
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 11期
关键词：
MECHANISMS;
D O I：
10.1002/ajmg.a.35595
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：2963 / 2968
页数：6
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