메뉴 건너뛰기




Volumn 34, Issue 5, 1997, Pages 423-425

Chromosome 22q11 deletion presenting as the Potter sequence

Author keywords

Chromosome 22q11; Kidney; Potter sequence; Velocardiofacial syndrome

Indexed keywords

AGENESIS; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 22Q; CHROMOSOME DELETION; FACE MALFORMATION; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HUMAN; HUMAN CELL; INHERITANCE; KIDNEY DYSPLASIA; KIDNEY POLYCYSTIC DISEASE; MALE; OVIDUCT; POTTER SYNDROME; PRIORITY JOURNAL; SOLITARY KIDNEY; UTERUS;

EID: 0030927637     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.5.423     Document Type: Article
Times cited : (44)

References (26)
  • 1
    • 0000082140 scopus 로고
    • Facial characteristics of children with bilateral renal agenesis
    • Potter EL. Facial characteristics of children with bilateral renal agenesis. Am J Obstet Gyneol 1946;41:855-88.
    • (1946) Am J Obstet Gyneol , vol.41 , pp. 855-888
    • Potter, E.L.1
  • 3
    • 0027485453 scopus 로고
    • Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134)
    • Wadey R, Daw S, Wickremasinghe A, et al. Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134). J Med Genet 1993;30:818-21.
    • (1993) J Med Genet , vol.30 , pp. 818-821
    • Wadey, R.1    Daw, S.2    Wickremasinghe, A.3
  • 4
    • 0025833053 scopus 로고
    • Velocardiofacial (Shprintzen) syndrome: An important syndrome for the dysmorphologist to recognise
    • Lipson AH, Yuille D, Angel M, et al. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J Med Genet 1991;28:596-604.
    • (1991) J Med Genet , vol.28 , pp. 596-604
    • Lipson, A.H.1    Yuille, D.2    Angel, M.3
  • 9
    • 0026750771 scopus 로고
    • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
    • Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992;50:924-33.
    • (1992) Am J Hum Genet , vol.50 , pp. 924-933
    • Driscoll, D.A.1    Budarf, M.L.2    Emanuel, B.S.3
  • 10
    • 0027184851 scopus 로고
    • Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anomaly
    • Palacios J, Gamallo C, Garcia M, Rodriguez JI. Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anomaly. Am J Med Genet 1993;46:641-6.
    • (1993) Am J Med Genet , vol.46 , pp. 641-646
    • Palacios, J.1    Gamallo, C.2    Garcia, M.3    Rodriguez, J.I.4
  • 11
    • 0022870167 scopus 로고
    • The velocardio-facial (Shprintzen) syndrome: Clinical variability in eight patients
    • Meinecke P, Beemer FA, Schinzel A, Kushnick T. The velocardio-facial (Shprintzen) syndrome: clinical variability in eight patients. Eur J Pediatr 1986;145:539-44.
    • (1986) Eur J Pediatr , vol.145 , pp. 539-544
    • Meinecke, P.1    Beemer, F.A.2    Schinzel, A.3    Kushnick, T.4
  • 14
    • 0021339670 scopus 로고
    • Familial nature of congenital absence and severe dysgenesis of both kidneys
    • Roodhooft AM, Birnholz JC, Holmes LB. Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 1984;310:1341.
    • (1984) N Engl J Med , vol.310 , pp. 1341
    • Roodhooft, A.M.1    Birnholz, J.C.2    Holmes, L.B.3
  • 15
    • 0021287518 scopus 로고
    • Müllerian anomalies and renal agenesis: Autosomal dominant urogenital adysplasia
    • Biedel CW, Pagon RA, Zapata JO. Müllerian anomalies and renal agenesis: autosomal dominant urogenital adysplasia. J Pediatr 1984;104:861-4.
    • (1984) J Pediatr , vol.104 , pp. 861-864
    • Biedel, C.W.1    Pagon, R.A.2    Zapata, J.O.3
  • 16
    • 0023186026 scopus 로고
    • Editorial comment: Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA)
    • Opitz JM. Editorial comment: vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA). Am J Med Genet 1987;26:873-6.
    • (1987) Am J Med Genet , vol.26 , pp. 873-876
    • Opitz, J.M.1
  • 17
    • 0029649368 scopus 로고
    • A genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis and vesicoureteral reflux
    • Devriendt K, Fryns JP. A genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis and vesicoureteral reflux. Am J Med Genet 1995;59:396-7.
    • (1995) Am J Med Genet , vol.59 , pp. 396-397
    • Devriendt, K.1    Fryns, J.P.2
  • 18
    • 0027279146 scopus 로고
    • Unilateral renal agenesis may result from in utero regression of multicystic renal dysplasia
    • Mesrobian HGJ, Rushton HG, Bulas D. Unilateral renal agenesis may result from in utero regression of multicystic renal dysplasia. J Urol 1993;150:793-4.
    • (1993) J Urol , vol.150 , pp. 793-794
    • Mesrobian, H.G.J.1    Rushton, H.G.2    Bulas, D.3
  • 19
    • 0028998317 scopus 로고
    • Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
    • Budarf ML, Collins J, Gong W, et al. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet 1995;10:269-77.
    • (1995) Nat Genet , vol.10 , pp. 269-277
    • Budarf, M.L.1    Collins, J.2    Gong, W.3
  • 20
    • 0021334469 scopus 로고
    • Dependence of thymus development on derivatives of the neural crest
    • Bockman DE, Kirby ML. Dependence of thymus development on derivatives of the neural crest. Science 1984;223:498-500.
    • (1984) Science , vol.223 , pp. 498-500
    • Bockman, D.E.1    Kirby, M.L.2
  • 21
    • 0028926898 scopus 로고
    • Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2
    • Budarf ML, Konkle BA, Ludlow LB, et al. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 1995;4:763-6.
    • (1995) Hum Mol Genet , vol.4 , pp. 763-766
    • Budarf, M.L.1    Konkle, B.A.2    Ludlow, L.B.3
  • 22
    • 0026489956 scopus 로고
    • Possible role for COMT in psychosis associated with velo-cardio-facial syndrome
    • Dunham I, Collins J, Wadey R, Scambler P. Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. Lancet 1992;340:1361.
    • (1992) Lancet , vol.340 , pp. 1361
    • Dunham, I.1    Collins, J.2    Wadey, R.3    Scambler, P.4
  • 23
    • 0027517085 scopus 로고
    • DiGeorge anomaly with renal agenesis in infants of mothers with diabetes
    • Wilson TA, Blethen SL, Vallone A, et al. DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. Am J Med Genet 1993;47:1078-82.
    • (1993) Am J Med Genet , vol.47 , pp. 1078-1082
    • Wilson, T.A.1    Blethen, S.L.2    Vallone, A.3
  • 24
    • 0028827215 scopus 로고
    • DiGeorge syndrome and partial monosomy 10p: Case report and review
    • Schuffenhauer S, Seidel H, Oechsler H, et al DiGeorge syndrome and partial monosomy 10p: case report and review. Ann Genet (Paris) 1995;35:162-7.
    • (1995) Ann Genet (Paris) , vol.35 , pp. 162-167
    • Schuffenhauer, S.1    Seidel, H.2    Oechsler, H.3
  • 25
    • 0028943334 scopus 로고
    • Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region
    • Lindsay EA, Greenberg F, Shaffer LG, et al. Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet 1995;56:191-7.
    • (1995) Am J Med Genet , vol.56 , pp. 191-197
    • Lindsay, E.A.1    Greenberg, F.2    Shaffer, L.G.3
  • 26
    • 0029033305 scopus 로고
    • Monozygotic twins with chromosome 22q11 deletion and discordant phenotype
    • Goodship J, Cross I, Scambler P, Burn J. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet 1995;32:746-8.
    • (1995) J Med Genet , vol.32 , pp. 746-748
    • Goodship, J.1    Cross, I.2    Scambler, P.3    Burn, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.