Duplication 2q33→2q37 due to paternal ins (12;2) translocation

Abstract

An 18 month-old boy with partial duplication of the long arm of chromosome 2, based on a paternal balanced translocation, 46,XY,ins (12,2)( q23;q33q37), is described and compared with five previously reported cases. These children have in common a short nose with broad flat bridge and small anteverted nostrils, long upper lip, low-set ears, and minor digital anomalies.

Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: Review of brain, cardiac, and limb malformations

“…Physical peculiarities described in these individuals could result from either the duplication or deficiency or a combination of both. The 7 children with "pure" duplication of various segments of 2q had several physical findings in common: low birth weight; psychomotor retardation; brachymicrocephaly; prominent forehead; broad, flat nasal bridge; short, beaked nose; hypertelorism; slanting palpebral fissures; micrognathia; and clinodactyly [Couturier et al, 1977;Dennis et al, 1978;Zankl et al, 1979;Schumacher et al, 1983;Kyllerman et al, 1984;Mu et al, 1984;Plessis et al, 19851. Our patient shared some of these anomalies, specifically flat nasal bridge, psychomotor retardation, and growth delay.…”

Partial trisomy 2q: Report of a patient with dup (2)(q33.1q35)

“…These case reports suggested a phenotype consisting of a number of findings, including cardiac, genitourinary, gastrointestinal, and central nervous system malformations; microcephaly; low birth weight and hypotonia; developmental delay and mental retardation; and a characteristic facial appearance [Zabel et al, 1976;Turleau et al, 1977;Dennis et al, 1978;Zankl et al, 1979;Porter et al, 1991;Romain et al, 1994]. However, as these were all reports of unbalanced translocations, each case was also associated with monosomy of another chromosome.…”

“…Individuals with trisomy 2q typically have developmental delays and severe to profound mental retardation [Turleau et al, 1977;Zankl et al, 1979;Mu et al, 1984;Romain et al, 1994]. Common facial features include a square-shaped face; prominent forehead and glabella; low set, dysplastic ears; hypertelorism; a broad, flat nasal root; a short nose with upturned nares; a long, flat philtrum; and micrognathia or retrognathia [Dennis et al, 1978;Zankl et al, 1979;Seidahmed et al, 1999].…”

“…[Zabel et al, 1976;Turleau et al, 1977;Dennis et al, 1978;Zankl et al, 1979]. More recently, there has been an attempt to delineate the phenotype of ''pure'' trisomy 2q, or trisomy 2q without the accompanying monosomy inherent in unbalanced translocations (Table I) [Dennis et al, 1978;Yu and Chen, 1982;Kyllerman et al, 1984;Stromland, 1985;Romain et al, 1994;Seidahmed et al, 1999;Angle et al, 2000;Bonaglia et al, 2000].…”

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

“…Ricci et al, 1968;Forabosco et al, 1973;Rosenthal et al, 1974;Warren et al, 1975;Zabel et al, 1976;Cotlier et al, 1977;Turleau et al, 1977;Laurent et al, 1978;Wisniewski et al, 1978;Zankl et al, 1979;Giliberti et al, 1980;Howard-Peebles and Goldsmith, 1980;Plessis et al, 1985;Lurie et al, 1986;Ardinger et al, 1987;Ho et al, 1987;Katsushim et al, 1987. b Porter et al, 1991 Couturier et al, 1977;Dennis et al, 1978;Barnicoat et al, 1997. d Yu and Chen, 1982;Dahoun-Hadorn and Bretton-Chappuis, 1992;Romain et al, 1994. e Richter et al, 1989. …”