Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers

Abstract

A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The reproductive impairment of balanced X/autosome translocations is discussed.

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.…”

“…Structural central nervous system abnormalities have also been reported in several patients [Schumacher et al, 1983;Marchese et al, 1984;Matos et al, 1997;Seidahmed et al, 1999]. Low birth weight and hypotonia have also frequently been associated with partial trisomy 2q [Turleau et al, 1977;Zankl et al, 1979]. 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].…”

“…[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].…”

“…Low birth weight and hypotonia have also frequently been associated with partial trisomy 2q [Turleau et al, 1977;Zankl et al, 1979]. 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].…”

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

“…In addition, the clinical findings in this patient may be more representative of the true trisomy 2q3 phenotype due to the lack of a significant partial monosomy, which have been associated with the majority of previous cases. 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. …”