BLEPHAROPHIMOSIS SEQUENCE AND DIAPHRAGMATIC-HERNIA ASSOCIATED WITH INTERSTITIAL DELETION OF CHROMOSOME-3 (46,XY,DEL(3)(Q21Q23))

被引：27
|
作者：
WOLSTENHOLME, J [1 ]
BROWN, J [1 ]
MASTERS, KG [1 ]
WRIGHT, C [1 ]
ENGLISH, CJ [1 ]
机构：
[1] UNIV NEWCASTLE UPON TYNE,ROYAL VICTORIA INFIRM,DIV PATHOL,NEWCASTLE TYNE NE1 4LP,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 08期
关键词：
D O I：
10.1136/jmg.31.8.647
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic and interstitial deletion hernia of the long arm of chromosome 3, del(3)(q21q23), is reported. Comparison with other cases of BPES resulting from 3q rearrangements indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23.
引用
收藏
页码：647 / 648
页数：2
相关论文
共 50 条
  • [1] INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-3 - DEL(3) (Q12Q21) DENOVO
    NIIHIRA, S
    FUJITA, H
    HARUMOTO, T
    SUZUKI, H
    MATSUMOTO, H
    JAPANESE JOURNAL OF HUMAN GENETICS, 1986, 31 (02): : 139 - 140
  • [2] INTERSTITIAL DELETION 46,XY,DEL(1)(Q23Q25)
    MARTIN, AO
    SIMPSON, JL
    HUMAN GENETICS, 1982, 61 (03) : 277 - 277
  • [3] Blepharophimosis-ptosis-epicanthus inversus syndrome associated with interstitial deletion of chromosome 3q21-23
    Noda, K
    Mashima, Y
    Nakamura, Y
    Tanaka, Y
    JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 1998, 35 (04) : 242 - 243
  • [4] DENOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-7 - 46,XY,DEL(7)(Q23-Q32)
    MARTINPONT, B
    PILCZER, C
    DANDINE, M
    TAMBOISE, A
    ANNALES DE GENETIQUE, 1985, 28 (04): : 251 - 253
  • [5] BOY WITH A CHROMOSOME DEL (3)(Q12Q23) AND BLEPHAROPHIMOSIS SYNDROME
    FUJITA, H
    MENG, JG
    KAWAMURA, M
    TOZUKA, N
    ISHII, F
    TANAKA, N
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (04): : 434 - 436
  • [6] INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-8 - KARYOTYPE - 46,XY,DEL(8)(Q21)
    FRYNS, JP
    LOGGHE, N
    VANEYGEN, M
    VANDENBERGHE, H
    HUMAN GENETICS, 1979, 48 (01) : 127 - 130
  • [7] A CASE-REPORT OF PARTIAL DELETION OF LONG ARM TO CHROMOSOME-11 - DEL(11) (Q21Q23)
    TAKI, H
    KUSUDA, S
    OHSASA, Y
    HASE, Y
    TSURUHARA, T
    YOSHIMURA, A
    JAPANESE JOURNAL OF HUMAN GENETICS, 1983, 28 (02): : 179 - 180
  • [8] DE-NOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME 3, 46, XX, DEL(3) (Q25.1Q26.1)
    ROBIN, NH
    MAGNUSSON, M
    MCDONALDMCGINN, D
    ZACKAI, EH
    SPINNER, NB
    CLINICAL GENETICS, 1993, 44 (06) : 335 - 337
  • [9] LACTOFERRIN MAPS TO HUMAN CHROMOSOME-3(Q21-Q23) AND MOUSE CHROMOSOME-9
    NAYLOR, SL
    MARSHALL, A
    SOLOMON, A
    MCGILL, JR
    MCCOMBS, J
    MAGNUSON, VL
    MOORE, CM
    LALLEY, PA
    PENTECOST, PT
    TENG, C
    CYTOGENETICS AND CELL GENETICS, 1987, 46 (1-4): : 669 - 669
  • [10] PATIENT WITH A PARTIAL DELETION OF SHORT ARM OF CHROMOSOME-3 - KARYOTYPE - 46,XY,DEL(3)(P25)
    VERJAAL, M
    DENEF, J
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1978, 132 (01): : 43 - 45
12345