MULTIPLE CONGENITAL ANOMALIES MENTAL RETARDATION (MCA-MR) SYNDROME DUE TO PARTIAL 1Q DUPLICATION AND POSSIBLE 18P DELETION - STUDY OF 4 INDIVIDUALS IN 2 FAMILIES

被引：32

作者：

LIBERFARB, RM

BREG, WR

ATKINS, L

HOLMES, LB

机构：

[1] SOUTHBURY TRAINING SCH,SOUTHBURY,CT 06488

[2] MASSACHUSETTS GEN HOSP,JAMES HOMER WRIGHT PATHOL LAB,BOSTON,MA 02114

[3] MASSACHUSETTS GEN HOSP,GENET UNIT,BOSTON,MA 02114

[4] YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06520

[5] YALE UNIV,SCH MED,DEPT PEDIAT,NEW HAVEN,CT 06520

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1979年 / 4卷 / 01期

关键词：

D O I：

10.1002/ajmg.1320040105

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have evaluated four individuals from two unrelated families with a similar multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial duplication of chromosome 1q and possible deletion of 18p. In both families the mothers and several relatives were carriers of the balanced translocation rcp t(1;18)(q42;p11). The features which the four have in common are relative macrocephaly, prominent forehead, micrognathia, and highly arched palate; three of the four individuals have short stature, scoliosis, kyphosis, hirsutism, camptodactyly, sacral dimple, repaired inguinal hernias, and eye abnormalities. Reproductive histories of five balanced translocation carriers in these families indicate that they have a high risk of spontaneous abortions and infants with multiple malformations.

引用

页码：27 / 37

页数：11