DELETION 14Q (Q22Q23) ASSOCIATED WITH ANOPHTHALMIA, ABSENT PITUITARY, AND OTHER ABNORMALITIES

被引:58
作者
BENNETT, CP
BETTS, DR
SELLER, MJ
机构
[1] Dept. of Medical Genetics, United Medical/Dental Schools, Guy's/St Thomas's Hospitals, London SE1 9RT, 8th Floor, Guy's Tower
关键词
D O I
10.1136/jmg.28.4.280
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A fetus is described with anophthalmia, absent pituitary, hypoplastic adrenal glands and kidneys, absent left horn of the uterus, underdeveloped genitalia, and clinodactyly, with a deletion of 14(q22q23). A review of published reports found no similar deletion cases.
引用
收藏
页码:280 / 281
页数:2
相关论文
共 6 条
[1]  
Buchanan P D, 1978, Birth Defects Orig Artic Ser, V14, P317
[2]  
Kawamura G, 1985, J PEDIATR PRACT, V48, P32
[3]   HYPOGONADOTROPIC HYPOGONADISM IN MENTALLY-RETARDED ADULTS WITH MICROPHTHALMIA AND CLINICAL ANOPHTHALMIA [J].
KEPPEN, LD ;
BRODSKY, MC ;
MICHAEL, JM ;
POINDEXTER, AR .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 36 (03) :285-287
[4]  
SERVILLE F, 1974, J GENET HUM, V22, P341
[5]  
TURLEAU C, 1984, ANN GENET-PARIS, V27, P237
[6]   DELETION 14Q(Q24.3 TO Q32.1) SYNDROME - SIGNIFICANCE OF PECULIAR FACIAL APPEARANCE IN ITS DIAGNOSIS, AND DELETION MAPPING OF PI(ALPHA-1-ANTITRYPSIN) [J].
YAMAMOTO, Y ;
SAWA, R ;
OKAMOTO, N ;
MATSUI, A ;
YANAGISAWA, M ;
IKEMOTO, S .
HUMAN GENETICS, 1986, 74 (02) :190-192