Skip to content
Research Article Open access CC BY 3.0

Familial Study of Paracentric Inversion in Chromosome 3p

Sandra Alves Peixoto Pellegrini, Maria Cecilia Menks Ribeiro, Evelyn Kahn, Gabriela Leal de Barros, Mauricio Assis Rodrigues, Marcelo de Paula Coutinho, Márcia Goncalves Ribeiro

Journal of Advances in Medicine and Medical Research · pp. 760–770 · Published 28 Feb 2013

10.9734/BJMMR/2013/2170

Abstract

Aims: To describe the familial occurrence of paracentric inversion of chromosome 3. Presentation of Cases: Patient 1: Female, Caucasian, born in Southeast of Brazil, 7 years old. Born at term and asphyxia. Developmental delay; aggressive behavior and tendency toward isolation. Prominent forehead, discrete epicanthal folds, down-slanting palpebral fissures, long philtrum and hypermobility of the four limbs. Karyotype: 46,XX,inv(3)(p13p25). Patient 2: Female, Caucasian, born in Northeast of Brazil, 3 years old. Born prematurely by cesarean section, pelvic presentation and asphyxia. Severe developmental delay. Microcephaly, bilateral convergent strabismus, epicanthal folds, wide nasal bridge, micrognathia, high arched palate and nasolabial hemangioma, low set ears, hypoplastic nipples, nucal café-au-lait spots, deep plantar fold. Dysgenesis of the corpus callosum. Karyotype: 46,XX,inv(3)(p13p25). Patient 3: Male, Caucasian, born in Southeast of Brazil, 5 years. Born at term, by cesarean section, cephalic presentation. Developmental delay and flexor spasms. Dolichocephalic skull, prominent forehead, ocular hypertelorism, epicanthal folds, disproportioned and low set ears, single palmary crease in the right hand, large and elongated thumbs, hypotonia, and recurrent acute otitis. Karyotype: 46,XY,inv(3)(p13p25). Discussion: Patients presented developmental delay and dysmorphic features, but the relatives that presented the same inversion were asymptomatic. Carriers seem to have a normal reproductive fitness, without differences between males and females. Conclusion: The chromosomal rearrangements, especially balanced chromosomal alterations provide an opportunity to broaden the understanding of the structure and functional organization of chromosomes and to offer better genetic counseling for the families.

Balanced rearrangement paracentric inversion chromosome 3p dysmorphic features familial inversion family study chromosomal imbalance karyotype-phenotype correlation

References (14)

  1. 1 Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases [DOI]
  2. 2 Sperm studies in heterozygote inversion carriers: a review [DOI]
  3. 3 Pericentric inversions in man: personal experience and review of the literature [DOI]
  4. 4 A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities [DOI]
  5. 5 Paracentric inversions in man [DOI]
  6. 6 Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes [DOI]
  7. 7 Investigation of the origins of human autosomal inversions [DOI]
  8. 8 Paracentric inversions in man. [DOI]
  9. 9 Paracentric inversions in man [DOI]
  10. 10 Identification of chromosomal abnormalities by quinacrine-staining technique in patients with normal karyotypes by conventional analysis [DOI]
  11. 11 Familial paracentric inversion of the short arm of chromosome 3.
  12. 12 A familial paracentric inversion in the short arm of chromosome 3: a case report [DOI]
  13. 13 Paracentric inversion 14.
  14. 14 International System for Human Cytogenetic Nomenclature [DOI]

Cited by 2

Prevalence of Chromosome Inversions (Pericentric and Paracentric) in Patients with Recurrent Abortions

A. Abdi, Medical Genetic Department, ‎Sarem Cell Research Center (SCRC), Sarem Women’s ‎Hospital, Tehran, Iran, I. Bagherizadeh · Sarem Journal of Reproductive Medicine · 2017

Showing 1 of 2 known citations — external sources report more than can currently be individually listed.

Related research

Article metrics

Real usage data collected on this platform.

7

Page views

0

PDF downloads

7

Outbound clicks

2

Citations

Views over time

Views by country

Approximate, from request IP at view time — not citizenship or institution. Countries with fewer than 5 views are grouped as "Other".

Traffic sources

Referring site, by host.

Views and downloads exclude known bots/crawlers. Citations combines this platform's own DOI-resolved index with each external source's own reported total — see Cited by above for individually listed citing works. Last refreshed 0 seconds ago.