INTERSTITIAL DELETION DEL(2)(Q24Q31) WITH A PHENOTYPE SIMILAR TO DEL(2)(Q31Q33)

被引:21
|
作者
WAMSLER, C [1 ]
MULLER, B [1 ]
FREYBERGER, G [1 ]
SCHMID, M [1 ]
机构
[1] UNIV WURZBURG,DEPT HUMAN GENET,KOELLIKERSTR 2,W-8700 WURZBURG,GERMANY
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 02期
关键词
DELETION-2Q; CHROMOSOMES; CONGENITAL ANOMALIES;
D O I
10.1002/ajmg.1320390217
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A 3 3/12-year-old girl with multiple anomalies is reported. An interstitial deletion del(2)(q24q31) was demonstrated. There is considerable overlap of symptoms in cases with del(2)(q31q33), which are reviewed.
引用
收藏
页码:204 / 206
页数:3
相关论文
共 50 条
  • [41] Three region-specific microdissection libraries for the long arm of human chromosome 2, regions q33-q35, q31-q32, and q23-q24
    Yu, JW
    Tong, SH
    Whittier, A
    Kao, FT
    SOMATIC CELL AND MOLECULAR GENETICS, 1995, 21 (05) : 335 - 343
  • [42] Lung hypoplasia in a patient with del(2)(q33-q35) demonstrated by chromosome microdissection
    Kramer, BW
    Martin, T
    Henn, W
    Lal, S
    Speer, CP
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 94 (03): : 184 - 188
  • [43] DE NOVO INTERSTITIAL DELETION OF LONG ARM OF CHROMOSOME DEL (1) (Q24Q32.1) IN A MALFORMED FEMALE INFANT
    TURLEAU, C
    ROUBIN, M
    CHAVINCOLIN, F
    SATGE, M
    GROUCHY, JD
    ANNALES DE GENETIQUE, 1974, 17 (04): : 291 - 294
  • [44] PHENOTYPIC, CYTOGENETIC AND MOLECULAR STUDIES IN AN INFANT WITH AN INTERSTITIAL 21Q DELETION - DEL(21)(Q21Q22.1)
    JAYAKAR, P
    COX, D
    BENKE, P
    TUCHMAN, R
    LUBS, H
    DONAHUE, R
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 266 - 266
  • [45] Ungewöhnliche Manifestation einer Interstitiellen Deletion 4q–: 12–21 [del(4)(q12q21)]Unusual Manifestation of an Interstitial Deletion 4q.-: 12–21 [del(4)(q12q21)]. Case report and comparison of literature regarding phenotype and genotype
    M. Thiel
    C. Behrend
    A. Feldkamp
    Monatsschrift Kinderheilkunde, 2000, 148 : 26 - 29
  • [46] Interstitial deletion of 13q22→q31:: case report and review of the literature
    Morales, Jose A.
    Mendizabal, Adriana P.
    Vasquez, Ana I.
    Figuera, Luis E.
    Gonzalez-Garcia, Juan R.
    CLINICAL DYSMORPHOLOGY, 2006, 15 (03) : 139 - 143
  • [47] PARTIAL TRISOMY 2Q AND FAMILIAL TRANSLOCATION T(2-12) (Q31/Q24)
    ZABEL, B
    HANSEN, S
    HARTMANN, W
    HUMAN GENETICS, 1976, 32 (01) : 101 - 104
  • [48] RECOGNITION OF A NEW DELETION SYNDROME - DEL (1Q)(Q23-Q25)
    HIGGINS, JV
    COUSINEAU, AJ
    HACKEL, E
    FISHER, RA
    ARANUS, E
    MENY, RG
    AMERICAN JOURNAL OF HUMAN GENETICS, 1982, 34 (06) : A128 - A128
  • [49] Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11) -: case report and review of the literature
    Kehrer-Sawatzki, H
    Daumiller, E
    Müller-Navia, J
    Kendziorra, H
    Rossier, E
    du Bois, G
    Barbi, G
    PRENATAL DIAGNOSIS, 2005, 25 (10) : 954 - 959
  • [50] ORDER OF 6 LOCI AT 2Q24-Q31 AND ORIENTATION OF THE HOXD LOCUS
    ROSSI, E
    FAIELLA, A
    ZEVIANI, M
    LABEIT, S
    FLORIDIA, G
    BRUNELLI, S
    CAMMARATA, M
    BONCINELLI, E
    ZUFFARDI, O
    GENOMICS, 1994, 24 (01) : 34 - 40