Radial aplasia and chromosome 22q11 deletion

被引：22

作者：

Digilio, MC

Giannotti, A

Marino, B

Guadagni, AM

Orzalesi, M

Dallapiccola, B

机构：

[1] BAMBINO GESU PEDIAT HOSP,DEPT MED GENET,ROME,ITALY

[2] BAMBINO GESU PEDIAT HOSP,DEPT PAEDIAT CARDIOL,ROME,ITALY

[3] BAMBINO GESU PEDIAT HOSP,DEPT NEONATOL,ROME,ITALY

[4] CSS HOSP,SAN GIOVANNI ROTO,ITALY

[5] UNIV ROMA TOR VERGATA,DEPT HUMAN GENET,ROME,ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 11期

关键词：

upper limb anomaly; radial anomaly; deletion; 22q11; velocardiofacial syndrome;

D O I：

10.1136/jmg.34.11.942

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a neonate with deletion 22q11 (de122q11) presenting with facial dysmorphism, ocular coloboma, congenital heart defect, urogenital malformations, and unilateral radial aplasia. This malformation complex includes features frequently occurring in velocardiofacial syndrome as well as findings described in the CHARGE and VACTERL associations. To our knowledge, the present case is the first report of radial aplasia in de122q11. This observation further supports and extends the clinical variability of de122q11.

引用

页码：942 / 944

页数：3

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