Trisomy 16q arising from a maternal 15p;16q translocation.

Partial trisomy 16q in two boys resulting from a maternal translocation, t(15;16) (p12;q11)

“…However, several patients with partial trisomy 16 syndromes have been described (Roberts & Duckett 1978). The clinical features of these infants showed similarities to those of 8 other cases of trisomy 16q reported in the literature (Ericksson et al 1971, Francke 1972, Schmickel et al 1975, Ridler & McKeown 1979, Balestrazzi et al 1979, Garau et al 1980, Buckton & Barr 1981, Rethork et al 1982. The clinical features of these infants showed similarities to those of 8 other cases of trisomy 16q reported in the literature (Ericksson et al 1971, Francke 1972, Schmickel et al 1975, Ridler & McKeown 1979, Balestrazzi et al 1979, Garau et al 1980, Buckton & Barr 1981, Rethork et al 1982.…”

“…To our knowledge, 8 cases of partial trisomy 16q have been published (Eriksson et al 1971, Francke 1972, Schmickel et al 1975, Balestrazzi et al 1979, Ridler & McKeown 1979, Garau et al 1980, Buckton & Barr 1981, Rethork et al 1982. The phenotypic effects of partial trisomy 16q are difficult to delineate because most of them are secondary to chromosome re-arrangements resulting concurrently in monosomies or trisomies for a second chromosome.…”

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

“…A short neck, genital hypoplasia, congenital heart disease, anal anomalies (anterior displacement of the anus), and vertebrae anomalies are also observed. 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, …”

“…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],...…”

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

“…Full trisomy 16 is well reported in spontaneous abortion and generally results in disorganised embryos with very little evidence of development. Limited postnatal survival is possible with both partial trisomy 16p and 16q.3 7 Roberts and Duckett3 reviewed published reports and included three cases of partial trisomy 16p, three cases of partial trisomy 16q, and one case with partial trisomy 16p and 16q. The most common features described in both of these trisomies were digital deformities, low birth weight, small malformed facies, which included low set abnormal ears, small palpebral fissures, and hypoplastic mandible.…”