Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion

Abstract

We report on a male infant with partial trisomy 2q (q34-->qter) resulting from a maternal pericentric inversion of chromosome 2 (p25. 2q34). The infant had clinical findings similar to the characteristic phenotype associated with a partial duplication of chromosome 2q3. Carriers of pericentric inversions of chromosome 2 have an increased risk of pregnancy loss but have only rarely been reported to have a liveborn offspring with an unbalanced chromosome constitution. This case further confirms the risks associated with a pericentric inversion of chromosome 2 and is the second report with manifestations of the trisomy 2q3 phenotype.

Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37

“…Early publications described increased reproductive wastage, but no liveborns with an unbalanced recombination of a parental pericentric inversion 2 [Djalali et al, 1986]. Then Magee et al [1998] and Lacbawan et al [1999] described offspring with chromosome abnormalities possibly related to their fathers' inversions; and Richter et al [1989] and Angle et al [2000] documented liveborns with recombinant 2s with duplication of 2q material and deletion of 2p material (opposite to our patients).…”

“…Further, the chromosome abnormality in Patient 1 represents a rearrangement of a maternally inherited pericentrically inverted 2. The inversion breakpoints of that chromosome, and of those inverted 2s in the families with viable recombinant offspring described by Richter et al [1989] and Angle et al [2000] are relatively distal. With distal breakpoints, the derived deletions and duplications are small.…”

Molecular cytogenetic characterization of a 2q35‐q37 duplication and a 4q35.1‐q35.2 deletion in two cousins: A genotype–phenotype analysis

“…). Some cases result from the unbalanced segregation or recombination of a familial chromosome rearrangement, while other cases are isolated 2q duplication [Laurent et al, ; Yu and Chen, ; Kyllerman et al, ; Stromland, ; Richter et al, ; Dahoun‐Hadorn and Bretton‐Chappuis, ; Fritz et al, ; Angle et al, ; Bonaglia et al, ; Bird and Mascarello, ; Batstone et al, ; Hermsen et al, ; Sebold et al, ; Elbrach et al, ; Rashidi‐Nezhad et al, ; Shim et al, ]. In Table , we compare the phenotypes of these cases to the symptoms found in our two patients.…”

“…The 2q3 duplication syndrome is another condition associated with variable developmental delay, microcephaly, facial anomalies (hypertelorism, low‐set ears, micrognathia), visceral abnormalities, and growth retardation. The duplication of the 2q34‐qter interval apparently plays a crucial role in the phenotype [Angle et al, ; Batstone et al, ; Slavotinek et al, ]. While there have been a number of reports of either 4q deletion syndrome or 2q3 duplication syndrome, there has been only one previous report of a patient with a combination of both [Rashidi‐Nezhad et al, ].…”

Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature

“…All were the unbalanced products of inherited translocations or inversions, and the trisomic segment varied less than in the cases of isolated duplications. In some cases, the monosomic segment contributed substantially to the phenotype [Ardinger et al, 1987;Herens et al, 1997], and in other cases, the deletion was thought to be miniscule and unimportant to the phenotype [Rosenthal et al, 1974;Warren et al, 1975;Zabel et al, 1976;Cotlier et al, 1977;Angle et al, 2000]. Not surprisingly, growth retardation was more common in cases with accompanying deletions.…”