Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features

Abstract

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). Both probands presented phenotypes consistent with those observed in other children with rec(4)parental, supporting the proposal that the rec(4)parental syndrome is a distinct entity among dup(4p) cases and may be suspected on the basis of the pattern of clinical symptoms. To the best of our knowledge this is only the second report of family with two probands affected with a recombinant chromosome 4 arising from a parental pericentric inversion.

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review

“…Including our patient, only 11 cases have been described to date [7,10-16,19]. Surprisingly, all cases have the same or very close breakpoints and all inherited the recombinant chromosome 4 from a parent who carried a pericentric inversion of chromosome 4.…”

Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

“…The parent's chromosomes are usually normal; few articles have described chromosomal rearrangements in parents and sons; it was present in two families and a mother with a pericentric inversion [9, 21]. The previous reports also indicate that there are more patients with large terminal deletions for full expression of the 4q phenotype, while there are less number of cases involving interstitial 4q31 deletions to be proposed as the “minimal critical region” most likely responsible for the 4q syndrome [6].…”

Molecular cytogenetic characterization of a 4p15.1‐pter duplication and a 4q35.1‐qter deletion in a recombinant of chromosome 4 pericentric inversion

“…We focused our literature review to recombinant cases of chromosome 4 inversion with breakpoints comparable to our case, that is, within sub‐bands p14p15 and q35. Ten cases of such chromosome 4 pericentric inversion recombinant have been reported to date [Wilson et al, 1970; Dallapiccola et al, 1974; Rethore et al, 1974; Kleczkowska et al, 1992; Hirsch and Baldinger, 1993; Dufke et al, 2000; Battaglia et al, 2002; Garcia‐Heras and Martin, 2002; Stembalska et al, 2007]. Clinical examination was not performed for one prenatal case [Dufke et al, 2000].…”

“…Clinical examination was not performed for one prenatal case [Dufke et al, 2000]. Two cases have been studied using FISH techniques [Stembalska et al, 2007] but none has been studied using array‐CGH. Dufke et al 2000 reported one family in which segregates a smaller pericentric inversion of chromosome 4.…”

“…Duplicated 4p and deleted 4q recombinant of chromosome 4 pericentric inversion involving sub‐bands p14p15 and q35 are viable [Gardner and Sutherland, 2004]. Up to now, nine cases of such chromosome 4 recombinant have been reported [Wilson et al, 1970; Dallapiccola et al, 1974; Rethore et al, 1974; Kleczkowska et al, 1992; Hirsch and Baldinger, 1993; Battaglia et al, 2002; Garcia‐Heras and Martin, 2002; Stembalska et al, 2007].…”