A rec(4) dup 4p inherited from a maternal inv(4)(p15q35) was detected in a four-year-old girl with malformations, developmental delay, and behavioral problems that resemble those for trisomy 4p. A review of eight other liveborns with rec(4) dup 4p shows that about 40% of them also have manifestations in common with trisomy 4p, but the rest have a variable spectrum of malformations. Overall, the rec(4) dup 4p phenotype is not specific, and a diagnosis would not have been feasible without cytogenetic studies. This lack of a clinically recognizable phenotype could reflect the effects of the variable sizes of deletions of 4q, molecular differences in the break points, or the known variable expression of trisomy 4p. The fact that 79% of the recombinants in the offspring of inv(4)(p13-p15q35) carriers are rec(4) dup 4p suggests that meiotic recombination favors its generation or that rec(4) dup 4q are more lethal in utero.
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Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.
Mol Cytogenet
May 2013
Cytogenetics Department, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
Background: Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of recombinant chromosome 4 have been reported.
Result: We describe the second case in which array-CGH was used to characterize recombinant chromosome 4 syndrome.
Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features.
Eur J Pediatr
January 2007
Department of Genetics, Wroclaw Medical University, Marcinkowskiego, 150-368 Wroclaw, Poland.
The chromosome 4 inversion with breakpoints p13-p15q35 results in a recombinant 4 [rec(4)] chromosome with a partial 4p duplication/4q deletion in approximately 80% of the carriers' offspring. However, whether the recombinant 4p syndrome can be recognized as a clinical entity is still open to controversy. We report on two sisters diagnosed with rec(4) resulting in a partial 4p trisomy/4q deletion that was inherited from their mother, who is a carrier of inv(4)(p14q35).
View Article and Find Full Text PDFRecombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.
Am J Med Genet
September 2002
Stella Maris Scientific Research Institute, Division of Child Neuropsychiatry, Department of Procreative Medicine and Pediatrics, University of Pisa, Calambrone (Pisa), Italy.
An informative patient with a MCA/MR syndrome consisting of developmental delay, prenatal onset growth delay, microcephaly, distinctive face, iris coloboma, and a congenital heart defect was found, on chromosome analysis, to have the following complement: 46,XY,rec(4) dup(4p) inv(4)(p14q35.1) mat. He has a partial 4p trisomy/distal 4q deletion due to an unbalanced pericentric inversion inherited from his mother.
View Article and Find Full Text PDFA rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review.
Am J Med Genet
May 2002
Genetic Testing Center, Bureau of Laboratories, Texas Department of Health, Denton, Texas, USA.
A rec(4) dup 4p inherited from a maternal inv(4)(p15q35) was detected in a four-year-old girl with malformations, developmental delay, and behavioral problems that resemble those for trisomy 4p. A review of eight other liveborns with rec(4) dup 4p shows that about 40% of them also have manifestations in common with trisomy 4p, but the rest have a variable spectrum of malformations. Overall, the rec(4) dup 4p phenotype is not specific, and a diagnosis would not have been feasible without cytogenetic studies.
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J Med Genet
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Department of Obstetrics and Gynecology, University of New Mexico School of Medicine, Albuquerque 87131.
A paternal pericentric inversion of chromosome 4 was ascertained through karyotype analysis of an abortus specimen proven to be 46,XX,rec(4),dup q, inv (4)(p13q28). The relationship of paternal pericentric inversion to pregnancy loss is discussed, and a recommendation for karyotype analysis of recurrent abortion specimens is made.
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