FAMILIAL UNBALANCED REARRANGEMENTS
OF CHROMOSOME 5 DUE TO A MATERNAL
BALANCED TRANSLOCATION 5;9
Sukarova-Angelovska E, Kocova M* *Corresponding Author: Professor Dr. Mirjana Kocova, Pediatric Clinic, Medical Faculty, Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel: +389-111-713; Fax: 389-129-027; E-mail: ozonunit@unet.com.mk page: 73
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INTRODUCTION
Structural rearrangements of chromosome 5p occur in 1:15,000-1:50,000 newborns. The prevalence in the population of mentally retarded individuals is 1:350 [1]. It includes monosomies, inversions and, less frequently, trisomies of portions of chromosome 5.
Cri du chat syndrome (CdCS) is associated with a deletion of the short arm of chromosome 5. Breakpoints differ ranging from 5p13 (D5S763) to 5p15.2 (D5S18). The critical region is 5p15.2-15.3 [1]. The phenotypic expression of the syndrome is variable. The severity of the clinical signs and the mental retardation are related to the size of the deleted portion. Most cases (75%) are caused by a de novo terminal deletion of 5p13-p15. Interstitial deletion due to inversions of chromosome 5 occurs in 8% of cases [2]. Translocation as a cause for CdCS in some population studies occurs with different frequencies; from 8-15%. Most of the translocations are de novo, and some are caused by a familial rearrangement of chromosome 5 [3,4]. In a large cohort of 80 patients, familial translocation was detected in only three cases (3.75%) [4].
Partial trisomy of 5p, on the other hand, is caused mostly by familial translocations of chromosome 5. There is only one report of trisomy 5p without other structural rearrangements of chromosomes in the family [5]. Depending on the length of a trisomic part of chromosome 5, there is a different, although severe, expression in affected individuals.
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