Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4)

被引：0
|
作者：
Fujimoto, A
Reddy, KS
Spinks, R
机构：
[1] Univ So Calif, Los Angeles Cty Med Ctr, Div Genet, Dept Pediat, Los Angeles, CA 90033 USA
[2] Univ So Calif, Sch Med, Los Angeles, CA USA
[3] Quest Diagnost, San Juan Capistrano, CA USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1998年 / 75卷 / 01期
关键词：
chromosome; 4; interstitial deletion; 4q12q21; piebald trait; 4q deletion; maternal insertion;
D O I：
10.1002/(SICI)1096-8628(19980106)75:1<78::AID-AJMG16>3.0.CO;2-P
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A 17-year-old boy who was diagnosed with "Waardenburg syndrome" showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a chromosome 8. The rearrangement was confirmed to be nonreciprocal and an insertion by in situ hybridization using whole chromosome 4 and 8 painting probes. The mother's karyotype is 46,XX,ins(8;4) (q21,2; q12q21.1); that of the propositus is 46,XY, der(4)ins(8;4) (q21.2;q12q21.1)mat. This is the first report of an inherited proximal 4q deletion, (C) 1998 Wiley-Liss, Inc.
引用
收藏
页码：78 / 81
页数：4
相关论文
共 50 条
  • [11] Deletion of 4q13.2q21.1 chromosome and autism spectrum disorder
    Posar, Annio
    Visconti, Paola
    Magini, Pamela
    Ambrosini, Enrico
    Severi, Giulia
    Seri, Marco
    JOURNAL OF PEDIATRIC NEUROSCIENCES, 2022, 17 (02) : 131 - 134
  • [12] DISTINCT PHENOTYPE ASSOCIATED WITH INTERSTITIAL LONG ARM DELETION OF CHROMOSOME 4q13.3→ q21.1
    Golabi, M.
    Hall, B.
    Cotter, P.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2011, 59 (01) : 168 - 168
  • [13] Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22):: New case and comparison with the literature
    Eggermann, K
    Bergmann, C
    Heil, I
    Eggermann, T
    Zerres, K
    Schüler, HM
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 134A (02) : 226 - 228
  • [14] A new inherited interstitial deletion of the distal long arm of chromosome 4,{del(4)(q32 q33)}
    Aladhami, SMS
    Gould, CP
    Muhammad, FA
    HUMAN HEREDITY, 2000, 50 (02) : 146 - 150
  • [15] 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
  • [16] Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation
    Mdzin, R.
    Ko, C.
    Latif, Abdul Z.
    Zakaria, Z.
    SINGAPORE MEDICAL JOURNAL, 2008, 49 (11) : E336 - E339
  • [17] Brief clinical report -: Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor
    Suwa, K
    Momoi, MY
    Yamagata, T
    Mori, Y
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 78 (03): : 291 - 293
  • [18] BRIEF CLINICAL REPORT - INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-4, DEL(4)(Q28-]Q31.3)
    COPELLI, S
    DELREY, G
    HEINRICH, J
    COCO, R
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 55 (01): : 77 - 79
  • [19] INTERSTITIAL DELETION OF CHROMOSOME 4Q DIAGNOSED PRENATALLY
    CAMPBELL, JM
    WILLIAMS, J
    BATCUP, G
    JOURNAL OF MEDICAL GENETICS, 1986, 23 (04) : 366 - 368
  • [20] De Novo 46,XX,del(4)(q12q13.3) in a 3 year-old with piebald trait.
    Eswara, MS
    Yang, S
    Tomlinson, M
    Qin, N
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 307 - 307
12345