CHONDRODYSPLASIA PUNCTATA WITH X-Y TRANSLOCATION

被引:44
作者
AGEMATSU, K
KOIKE, K
MOROSAWA, H
NAKAHORI, Y
NAKAGOME, Y
AKABANE, T
机构
[1] NATL CHILDRENS MED RES CTR,DEPT CONGENITAL ABNORMAL RES,TOKYO,JAPAN
[2] SUWA RED CROSS HOSP,DEPT PEDIAT,SUWA,JAPAN
关键词
D O I
10.1007/BF00451470
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:105 / 107
页数:3
相关论文
共 19 条
[1]   TRISOMY-9 MOSAICISM WITH PUNCTATE MINERALIZATION IN DEVELOPING CARTILAGES [J].
AKATSUKA, A ;
NISHIYA, O ;
KITAGAWA, T ;
KAGEYAMA, A ;
INANA, I ;
NAKAGOME, Y .
EUROPEAN JOURNAL OF PEDIATRICS, 1979, 131 (04) :271-275
[2]   Y-TO-X-CHROMOSOME TRANSLOCATION OBSERVED IN 2 GENERATIONS [J].
AKESSON, HO ;
HAGBERG, B ;
WAHLSTROM, J .
HUMAN GENETICS, 1980, 55 (01) :39-42
[3]   INHERITED CHONDRODYSPLASIA PUNCTATA DUE TO A DELETION OF THE TERMINAL SHORT ARM OF AN X-CHROMOSOME [J].
CURRY, CJR ;
MAGENIS, RE ;
BROWN, M ;
LANMAN, JT ;
TSAI, J ;
OLAGUE, P ;
GOODFELLOW, P ;
MOHANDAS, T ;
BERGNER, EA ;
SHAPIRO, LJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (16) :1010-1015
[4]   CHONDRODYSPLASIA PUNCTATA - RHIZOMELIC FORM - PATHOLOGIC AND RADIOLOGIC STUDIES OF 3 INFANTS [J].
GILBERT, EF ;
OPITZ, JM ;
SPRANGER, JW ;
LANGER, LO ;
WOLFSON, JJ ;
VISESKUL, C .
EUROPEAN JOURNAL OF PEDIATRICS, 1976, 123 (02) :89-109
[5]   HOMOLOGOUS GENES FOR X-LINKED CHONDRODYSPLASIA PUNCTATA IN MAN AND MOUSE [J].
HAPPLE, R ;
PHILLIPS, RJS ;
ROESSNER, A ;
JUNEMANN, G .
HUMAN GENETICS, 1983, 63 (01) :24-27
[6]   CHONDRODYSPLASIA PUNCTATA IN AN INFANT WITH DUPLICATION 16P DUE TO A 7-16 TRANSLOCATION [J].
HUNTER, AGW ;
RIMOIN, DL ;
KOCH, UM ;
MACDONALD, GJ ;
COX, DM ;
LACHMAN, RS ;
ADOMIAN, G .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (03) :581-589
[7]   PARTIAL SHORT ARM DELETIONS OF THE X-CHROMOSOME AND SPONTANEOUS PUBERTAL DEVELOPMENT IN GIRLS WITH SHORT STATURE [J].
KALOUSEK, D ;
SCHIFFRIN, A ;
BERGUER, AM ;
SPIER, P ;
GUYDA, H ;
COLLE, E .
JOURNAL OF PEDIATRICS, 1979, 94 (06) :891-894
[8]  
MANZKE H, 1980, CLIN GENET, V17, P97
[9]   A FAMILIAL X/Y TRANSLOCATION IN A BOY WITH ICHTHYOSIS, HYPOGONADISM AND MENTAL-RETARDATION [J].
METAXOTOU, C ;
IKKOS, D ;
PANAGIOTOPOULOU, P ;
ALEVIZAKI, M ;
MAVROU, A ;
TSENGHI, C ;
MATSANIOTIS, N .
CLINICAL GENETICS, 1983, 24 (05) :380-383
[10]   A HUMAN Y-CHROMOSOME SPECIFIC REPEATED DNA FAMILY (DYZ1) CONSISTS OF A TANDEM ARRAY OF PENTANUCLEOTIDES [J].
NAKAHORI, Y ;
MITANI, K ;
YAMADA, M ;
NAKAGOME, Y .
NUCLEIC ACIDS RESEARCH, 1986, 14 (19) :7569-7580