Two cases with different deletions of the long arm of chromosome 7
- PMID: 458833
- PMCID: PMC1012742
- DOI: 10.1136/jmg.16.2.151
Two cases with different deletions of the long arm of chromosome 7
Abstract
Two mentally and physically retarded girls, one with an interstitial deletion 7 (pter leads to q21::q32 leads to qter), and the other with an interstitial deletion 7 (pter leads to q11::q22 leads to qter), are described. Their clinical features are compared with those of 11 earlier reported cases with a deletion 7q. The Hageman factor, the locus of which is assigned to the distal part of 7q, was in both cases within normal limits. The data available do not justify the delineation of a specific clinical syndrome.
Similar articles
-
Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43).Clin Genet. 1985 May;27(5):515-9. doi: 10.1111/j.1399-0004.1985.tb00242.x. Clin Genet. 1985. PMID: 4006278
-
Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studies.Clin Genet. 1980;17(3):228-37. doi: 10.1111/j.1399-0004.1980.tb00138.x. Clin Genet. 1980. PMID: 6928813
-
Proximal interstitial deletion of 7q: a case report and review of the literature.Am J Med Genet. 1990 Jul;36(3):328-32. doi: 10.1002/ajmg.1320360317. Am J Med Genet. 1990. PMID: 2194394 Review.
-
Centric fission of chromosome 7 with 47,XX,del(7)(pter----cen::q21----qter)+cen fr karyotype in a mother and proximal 7q deletion in two malformed newborns.Ann Genet. 1985;28(4):248-50. Ann Genet. 1985. PMID: 3879440
-
Terminal deletion of the long arm of chromosome 4 in a mother and two sons.Clin Genet. 1996 Dec;50(6):538-40. doi: 10.1111/j.1399-0004.1996.tb02733.x. Clin Genet. 1996. PMID: 9147894 Review.
Cited by
-
Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).J Med Genet. 1982 Dec;19(6):473-6. doi: 10.1136/jmg.19.6.473. J Med Genet. 1982. PMID: 7154049 Free PMC article.
-
Partial monosomy 7q syndrome due to distal interstitial deletion.Hum Genet. 1981;57(2):210-3. doi: 10.1007/BF00282026. Hum Genet. 1981. PMID: 7228036
-
Full trisomy 7 and Potter syndrome.Hum Genet. 1980;54(1):13-18. doi: 10.1007/BF00279043. Hum Genet. 1980. PMID: 7390476
-
A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.J Med Genet. 1989 Oct;26(10):619-25. doi: 10.1136/jmg.26.10.619. J Med Genet. 1989. PMID: 2486209 Free PMC article.
-
Genetic factors in congenital diaphragmatic hernia.Am J Hum Genet. 2007 May;80(5):825-45. doi: 10.1086/513442. Epub 2007 Apr 4. Am J Hum Genet. 2007. PMID: 17436238 Free PMC article. Review.
References
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources