Partial trisomy 16 as a result of familial 16;20 translocation.

Molecular characterization of partial trisomy 16q24.1‐qter: Clinical report and review of the literature

“…However, our patient does not have limb abnormalities such as camptodactyly and joint contractures described in trisomy, including the 16q23 segment [Schmickel et al, 1975;Ridler and McKeown, 1979;Garau et al, 1980;Buckton and Barr, 1981;Rethoré et al, 1982;Nevin et al, 1983;Hatanaka et al, 1984;Hahm et al, 1987;Nyhan et al, 1989;Maher et al, 1991;Houlston et al, 1994;Masuno et al, 2000]. Also, she did not present with foot deformity, as seen in patients with 16q22 trisomy [Schmickel et al, 1975;Balestrazzi et al, 1979;Garau et al, 1980;Rethoré et al, 1982;Nevin et al, 1983;Calva et al, 1984; Schmickel et al [1975]; b, Ridler and McKeown [1979]; c, Nevin et al [1983]; d, Hahm et al [1987]; e, Eggermann et al [1998]; f, Bacino et al [1999]; g, Masuno et al [2000]; h, Perez-Castillo et al [1990]; i, Paladini et al [1999]; j, Buckton and Barr [1981]; k, Davison and Beesley [1984]; l, Hatanaka et al [1984]<...>…”

“…Also, she did not present with foot deformity, as seen in patients with 16q22 trisomy [Schmickel et al, 1975;Balestrazzi et al, 1979;Garau et al, 1980;Rethoré et al, 1982;Nevin et al, 1983;Calva et al, 1984; Schmickel et al [1975]; b, Ridler and McKeown [1979]; c, Nevin et al [1983]; d, Hahm et al [1987]; e, Eggermann et al [1998]; f, Bacino et al [1999]; g, Masuno et al [2000]; h, Perez-Castillo et al [1990]; i, Paladini et al [1999]; j, Buckton and Barr [1981]; k, Davison and Beesley [1984]; l, Hatanaka et al [1984]; m, Dowman et al [1989]; n, Balestrazzi et al [1979]; o, Garau et al [1980]; p, Lessick et al [1989]; q, Maher et al [1991]; r, Rethoré et al [1982]; s, Calva et al [1984]; t, …”

“…Since this case, 28 patients with partial trisomy 16q have been reported [Balestrazzi et al, 1979;Ridler and McKeown, 1979;Garau et al, 1980;Buckton and Barr, 1981;Rethoré et al, 1982;Nevin et al, 1983;Calva et al, 1984;Davison and Beesley, 1984;Hatanaka et al, 1984;Hahm et al, 1987;Dowman et al, 1989;Lessick et al, 1989;Nyhan et al, 1989;Perez-Castillo et al, 1990;Maher et al, 1991;Savary et al, 1991;Houlston et al, 1994;Eggermann et al, 1998;Bacino et al, 1999;Paladini et al, 1999;Masuno et al, 2000]. Most cases of trisomy 16q resulted from a malsegregation of a parental balanced translocation [Schmickel et al, 1975;Balestrazzi et al, 1979;Ridler and McKeown, 1979;Garau et al, 1980;Buckton and Barr, 1981;Rethoré et al, 1982;Nevin et al, 1983;Calva et al, 1984;Davison and Beesley, 1984;Hatanaka et al, 1984;Hahm et al, 1987;Dowman et al, 1989;Lessick et al, 1989;Nyhan et al, 1989;Perez-Castillo et al, 1990;Maher et al, 1991;Savary et al, 1991;Paladini et al, 1999],...…”

Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.

“…In addition the infant was noted to have dysmorphic features including a high forehead, small, narrow palpebral fissures with a slight antimongoloid slant, mild midface utosomal hypoplasia, and micrognathia. Unfortunately S. 12 While permission was not obtained to publish clinical there are photographs. Examination of the oral cavity ication of showed a high arched palate and a sublingual Dlved vir-frenulum.…”

Prenatal findings in trisomy 16q of paternal origin

“…The range of trisomy 16 varies from full trisomies (Cusick et al, 1995;Yancey et al, 1996) to mosaics (Gilbertson et al, 1990;Devi et al, 1993;Paulyson et al, 1996) and partial trisomies of 16p (Leonard et al, 1992;Golden et al, 1981;Jalal et al, 1989;Roberts and Duckett, 1978) or 16q (Davison and Beesley, 1984;Eriksson et al, 1971;Francke, 1972;Nevin et al, 1983). The latter are often associated with balanced translocations in one of the parents, most frequently in the mother.…”