Overgrowth and retarded development associated with chromosome 22q13 deletion;Ubermassiges Wachstum und Entwicklungsverzogerung assoziiert mit chromosomaler Deletion 22q13

Monatsschrift fur Kinderheilkunde

Volumn 145, Issue 9, 1997, Pages 892-896

  Hinkel, G K ^a   Bartsch, O ^a   Blin, N ^b   Friebel, D ^a   Klengel, S ^a   Kraft, S ^a   Schroder K ^b   Werner, W ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Chromosome deletion 22q; Overgrowth syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; FACE DYSMORPHIA; FEMALE; HUMAN; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE; PRESCHOOL CHILD; SYNDROME; TALL STATURE;

EID: 0030796240     PISSN: 00269298     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001120050191     Document Type: Article

References (13)

1. Cole TR, Hughes HE (1990) Sotos syndrome. J Med Genet 27:571-576
2. Herman GE, Greenberg F, Ledbetter DH (1988) Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del (22q). Am J Med Genet 29:909-915
3. Kirshenbaum G, Chmura M, Rhone DP (1988) Long arm deletion of chromosome 22. J Med Genet 25:780
4. Narahara K, Takahashi Y, Murakami M, Tsuji K, Yokoyama Y, Murakami R, Ninomiya S, Seino Y (1992) Terminal 22q deletion associated with a partial deficiency of arylsulfatase. Am J Med Genet 29:432-433
5. Nesslinger N, Gorski J, Kurczynski W, Shapira, S, Siegel-Bartelt J, Dumanski J, Cullen, R, French B, McDermid H (1994) Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet 54:464-472
6. Phelan MC, Thomas GR, Saul RA, Rogers RC, Taylor HA, Wenger DA, McDermid HE (1992) Cytogenetic, biochemical, and molecular analysis of a 22q13 deletion. Am J Med Genet 43:872-876
7. Romain DR, Goldsmith J, Cairney H, Columbano-Green LM, Smythe RH, Parfitt RG (1990) Partial monosomy for chromosome 22 in a patient with del (22) (pter-q13.1:q13.33-qter). J Med Genet 27:588-589
8. Schmitt H, Kim UJ, Slepak T, Blin N, Simon M, Shizuya H (1996) Framework for a physical map of the human 22q13-region using bacterial artificial chromosomes (BACs). Genomics 33:9-20
9. Schrander-Stumpel CT, Fryns JP, Hamers GG (1990) Sotos syndrome and de novo balanced autosomal translocation [t(3;6)(p21;p21)]. Clin Genet 37:226-229
10. Shizuya H, Birren B, Kim UJ, Mancino V, Slepak T, Tachiri Y, Simon M (1992) Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using F-factor-based vector. Proc Natl Acad Sci USA 89:8794-8797
11. Tamaki K, Horie K, Go T, Okuno T, Mikawa H, Hua ZY, Abe T (1989) Sotos syndrome with a balanced reciprocal translocation t(2:12)(q33.3;q15). Ann Genet 32:244-6
12. Wajntal A, Koiffman CP (1991) Chromosome aberrations in Sotos syndrome. Clin Genet 40:472
13. Watt JL, Olson IA, Jonston AW, Ross HS, Couzin DA, Stephan GS (1985) A familial pericentric inversion of chromsome 22 with a recombinant subject illustrating a "pure" partial monosomy syndrome. J Med Genet 22:283-287