Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review

Abstract

Two siblings with a partial duplication 16q, born to a woman with a balanced translocation (6; 16), are described. The first infant died at 8 weeks of age; the second died at 4 months. Fifteen other cases of duplications involving 16q have been reported, all of them derived from a balanced parental translocation. The most frequent physical findings have included dysmorphic facies characterized by high forehead, prominent nose, antimongoloid slant, malformed ears, and micrognathia, as well as flexion contractures of the joints, deformity of the feet, and genital hypoplasia in the male. Anorectal, intestinal and cardiac malformations were less frequent findings. Most of the affected infants died at ages ranging from 8 days to 6 months. The few with longer survival (up to 6 years) had a shorter, more distal segment duplication of chromosome 16. Although intrauterine growth retardation and microcephaly were not always present at birth, most of the infants had postnatal growth failure. The phenotypic and clinical findings of the two infants in this report are compared with those of previously reported cases, from which there appears to be correlation of the length of the 16q duplication with clinical phenotype and survivals.

Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature

“… References: (1) Schmickel et al [1975], (2) Masuno et al [2000], (3) Ridler and McKeown [1979], (4) Nevin et al [1983], (5) Hahm et al [1987], (6) Paladini et al [1999], (7) Chen et al [2004], (8) Chen et al [2005b], (9) Buckton and Barr [1981], (10) Davison and Beesley [1984], (11) Hatanaka et al [1984], (12) Dowman et al [1989], (13) Balestrazzi et al [1979], (14) Garau et al [1980], (15) Rethoré et al [1982], (16) Calva et al [1984], (17) Lessick et al [1989], (18) Nyhan et al [1989], (19) Maher et al [1991], (20) Houlston et al [1994], (21) Sousa et al [2004], (22) Chen et al [2005a], (23) Giardino et al [2001], (24) Brisset et al [2002], (25) Zahn et al [2005], (26) Magnelli [1976], (27) Yunis et al [1977], (28) Jalal et al [1989], (29) Léonard et al [1992], and (30) Rochat et al [2007]. …”

Copy number variants in hypoplastic right heart syndrome

“…A 7.5 Mb duplication was identified on the long arm of chromosome 16 occupying most of 16q11q12 locus. Previous reports have described an association between large duplications of chromosome 16 and cardiac malformations (Hahm, Chitayat, Iqbal, Cho, & Nitowsky, ; Odak, Barišić, Morožin Pohovski, Riegel, & Schinzel, ). Five genes within the identified duplicated region, RPGRIP1L , RBL2, SALL1, NKD1 , and MYLK3 have been previously linked with heart development and heart abnormalities and could potentially be related to HRHS.…”

A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature

“…For each segment, reported phenotypes are counted using the + symbol. References for cases in the table: q11!qter: (Eggermann et al, 1998;Hahm et al, 1987;Nevin et al, 1983;Ridler & McKeown, 1979); q12!qter: (Chen et al, 2003;Paladini et al, 1999); q13!qter: (Buckton & Barr, 1981;Davison & Beesley, 1984;Dowman et al, 1989;Hatanaka et al, 1984;Luberda-Zapa snik et al, 1995); q21!qter: (Balestrazzi et al, 1979;Calva et al, 1984;de Carvalho et al, 2010;Garau et al, 1980;Lessick et al, 1989;Maher et al, 1991;Mishra et al, 2018;Yue et al, 2019); q22!qter: (Basinko et al, 2011;Houlston et al, 1994;Nyhan et al, 1989;…”

“…For each segment, reported phenotypes are counted using the + symbol. References for cases in the table: q11 → qter: (Eggermann et al, 1998; Hahm et al, 1987; Nevin et al, 1983; Ridler & McKeown, 1979); q12 → qter: (Chen et al, 2003; Paladini et al, 1999); q13 → qter: (Buckton & Barr, 1981; Davison & Beesley, 1984; Dowman et al, 1989; Hatanaka et al, 1984; Luberda‐Zapaśnik et al, 1995); q21 → qter: (Balestrazzi et al, 1979; Calva et al, 1984; de Carvalho et al, 2010; Garau et al, 1980; Lessick et al, 1989; Maher et al, 1991; Mishra et al, 2018; Yue et al, 2019); q22 → qter: (Basinko et al, 2011; Houlston et al, 1994; Nyhan et al, 1989; Rethoré et al, 1982; Sousa et al, 2004; Tsien et al, 2005); q23 → qter: (Basinko et al, 2011; Maher et al, 1991; Papadopoulou et al, 2017; Savary et al, 1991); q24 → qter: (Baker et al, 2002; Brisset et al, 2002; Ferrero et al, 2006; Giardino et al, 2001; Maher et al, 1991; Zahn et al, 2005; Zhou et al, 2013); Unknown: (Eriksson et al, 1971; Ferguson Jr. & Hicks, 1987; Francke, 1972). These publications did not utilize modern chromosome analysis techniques; however, the phenotypic description is most consistent with involvement of large segment of 16q; for reference (Francke, 1972), the relevant case is #10.…”