ASSOCIATION OF THE ROBIN SEQUENCE WITH THE FRAGILE-X SYNDROME

被引：9

作者：

LACHIEWICZ, AM

HOEGERMAN, SF

HOLMGREN, G

HOLMBERG, E

ARINBJARNARSON, K

机构：

[1] COLL WILLIAM & MARY,DEPT BIOL,WILLIAMSBURG,VA 23185

[2] DUKE UNIV,MED CTR,CHILD DEV UNIT,DURHAM,NC 27710

[3] EASTERN VIRGINIA MED SCH,GENET PROGRAM,NORFOLK,VA 23501

[4] UMEA UNIV HOSP,DEPT CLIN GENET,S-90185 UMEA,SWEDEN

[5] DEPT PEDIAT,SKELLEFTEA,SWEDEN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 03期

关键词：

CLEFT PALATE; MICROGNATHIA; GLOSSOPTOSIS;

D O I：

10.1002/ajmg.1320410302

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 4 individuals with the fragile X [fra(X)] syndrome and the Robin sequence (or elements of that sequence). To our knowledge, this association has been described in only one other boy. However, males with the fra(X) syndrome have been reported to have an increased incidence of cleft palate. We recommend that children with a cleft palate or the Robin sequence be assessed for developmental delays and a family history of mental retardation. The fra(X) syndrome may be one of the genetic causes of the Robin sequence and, when indicated, children with the sequence should be tested for fra(X).

引用

页码：275 / 278

页数：4

共 12 条

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