BLEPHAROPHIMOSIS, PTOSIS, EPICANTHUS INVERSUS SYNDROME, A NEW CASE ASSOCIATED WITH DE-NOVO BALANCED AUTOSOMAL TRANSLOCATION [46,XY,T(37) (Q23Q32)]

被引：23

作者：

BOCCONE, L ^{[1
]}

MELONI, A ^{[1
]}

FALCHI, AM ^{[1
]}

USAI, V ^{[1
]}

CAO, A ^{[1
]}

机构：

[1] UNIV CAGLIARI,IST CLIN & BIOL ETA EVOLUT,I-09100 CAGLIARI,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 51卷 / 03期

关键词：

BPES SYNDROME; DE NOVO 3Q/7Q TRANSLOCATION; BPES GENE(S) AT 3Q23 BAND;

D O I：

10.1002/ajmg.1320510317

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This paper reports a further case of blepharophimosis, ptosis, epicanthus inversus (BPES) syndrome associated with a reciprocal translocation [46,XY,t(3;7)(q23;q32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region. (C) 1994 Wiley-Liss, Inc.

引用

页码：258 / 259

页数：2

共 15 条

[1] ANOTHER EXAMPLE FAVORING THE LOCATION OF BPES AT 3Q2
DEALMEIDA, JCC
LLERENA, JC
NETO, JBG
JUNG, M
MARTINS, RR
[J]. JOURNAL OF MEDICAL GENETICS, 1993, 30 (01) : 86 - 86
[2] FURTHER EVIDENCE FOR THE LOCATION OF THE BPES GENE AT 3Q2
DEDIESMULDERS, CEM
ENGELEN, JJM
DONK, JM
FRYNS, JP
[J]. JOURNAL OF MEDICAL GENETICS, 1991, 28 (10) : 725 - 725
[3] DIMITRY TJ, 1921, AM J OPHTHALMOL, V4, P655
[4] DEGOS R, 1957, Bull Soc Fr Dermatol Syphiligr, V64, P279
[5] BOY WITH A CHROMOSOME DEL (3)(Q12Q23) AND BLEPHAROPHIMOSIS SYNDROME
FUJITA, H
MENG, JG
KAWAMURA, M
TOZUKA, N
ISHII, F
TANAKA, N
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (04): : 434 - 436
[6] FUKUSHIMA Y, 1991, AM J MED GENET, V36, P414
[7] INHIBITORY EFFECT OF ETHIDIUM-BROMIDE ON MITOTIC CHROMOSOME CONDENSATION AND ITS APPLICATION TO HIGH-RESOLUTION CHROMOSOME-BANDING
IKEUCHI, T
[J]. CYTOGENETICS AND CELL GENETICS, 1984, 38 (01): : 56 - 61
[8] Jewett T., 1992, American Journal of Human Genetics, V51, pA81
[9] KHON R, 1971, AM H OPHTHALMOL, V72, P625
[10] MORAINE C, 1976, J GENET HUM, V24, P125

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