Inheritance of familial congenital isolated anorectal malformations: Case report and review

被引：0
|
作者：
Landau, D
Mordechai, J
Karplus, M
Carmi, R
机构：
[1] BEN GURION UNIV NEGEV,SOROKA MED CTR,DEPT PEDIAT SURG,IL-84105 BEER SHEVA,ISRAEL
[2] BEN GURION UNIV NEGEV,SOROKA MED CTR,DEPT CLIN GENET,IL-84105 BEER SHEVA,ISRAEL
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1997年 / 71卷 / 03期
关键词：
anorectal malformations; inheritance; autosomal;
D O I：
10.1002/(SICI)1096-8628(19970822)71:3<280::AID-AJMG6>3.0.CO;2-Y
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a 3-generation family with 4 members affected with congenital low anorectal malformations, The vertical segregation of the anomalies and the occurrence of affected males and females support autoso mal-dominant inheritance, which was suggested previously for this type of congenital anomaly. (C) 1997 Wiley-Liss, Inc.
引用
收藏
页码：280 / 282
页数：3
相关论文
共 50 条
  • [41] A case report of familial dyskeratosis congenital. Case report
    Luchkin, Anton, V
    Mikhailova, Elena A.
    Fidarova, Zalina T.
    Troitskaya, Vera V.
    Galtseva, Irina, V
    Kovrigina, Alla M.
    Glinkina, Svetlana A.
    Dvirnyk, Valentina N.
    Raykina, Elena, V
    Pavlova, Anna, V
    Demina, Irina A.
    Parovichnikova, Elena N.
    TERAPEVTICHESKII ARKHIV, 2021, 93 (07) : 818 - 825
  • [42] Familial inheritance of the 3q29 microdeletion syndrome: case report and review
    Wahab A. Khan
    Ninette Cohen
    Stuart A. Scott
    Elaine M. Pereira
    BMC Medical Genomics, 12
  • [43] Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature
    Alharbi, Ralah
    Suchet-Dechaud, Anna
    Harzallah, Ines
    Touraine, Renaud
    Ramond, Francis
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2024, 69
  • [44] Familial inheritance of the 3q29 microdeletion syndrome: case report and review
    Khan, Wahab A.
    Cohen, Ninette
    Scott, Stuart A.
    Pereira, Elaine M.
    BMC MEDICAL GENOMICS, 2019, 12 (1)
  • [45] ISOLATED CONGENITAL FAMILIAL THUMB DEFORMITIES - REPORT OF A FAMILY
    BILBREY, GL
    NEW ENGLAND JOURNAL OF MEDICINE, 1966, 274 (19): : 1057 - &
  • [46] Advantages of robot-assisted surgery in anorectal malformations: Report of a case
    Rodriguez Ruiz, Maria
    Kalfa, Nicolas
    Allal, Hossein
    JOURNAL OF MINIMAL ACCESS SURGERY, 2016, 12 (02) : 176 - 178
  • [47] Further evidence of autosomal dominant inheritance of the nonsyndromal anorectal malformations
    Robb, L
    Teebi, AS
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 79 (05): : 400 - 400
  • [48] FAMILIAL CONGENITAL ESOPHAGEAL ATRESIA - PERSONAL CASE-REPORT AND REVIEW OF THE LITERATURE
    VANSTAEY, M
    DEBIE, S
    MATTON, MT
    DEROOSE, J
    HUMAN GENETICS, 1984, 66 (2-3) : 260 - 266
  • [49] Congenital malformations of the appendix - A familial disease
    Downs, TM
    ANNALS OF SURGERY, 1942, 115 : 21 - 24
  • [50] New mouse models of congenital anorectal malformations - Discussion
    Moore, TC
    Kim, PCW
    Hay-Sordin, A
    Gittes, GK
    Paidas, CN
    JOURNAL OF PEDIATRIC SURGERY, 2000, 35 (02) : 230 - 231
12345