Trisomy 9 Mosaicism with Multiple Congenital Anomalies

Partial trisomy 9 with resemblance to Coffin-Siris syndrome.

“…One of these was a complete trisomy of chromosome 9 (Feingold and Atkins, 1973) and the other a trisomy 9 mosaicism (Haslam et al, 1973). Our patient had a karyotype of 47,XX, + 9q -; to the best of our knowledge no such patient has been previously reported.…”

“…It has been found in all the cells examined in a newborn child with multiple congenital abnormalities (Feingold and Atkins, 1973) and also in a proportion of the cells of a newborn infant (Bowen, Ying, and Chung, 1974) and a child of 9 years (Haslam et al, 1973) both of whom had severe congenital abnormalities.…”

Trisomy 9: Review and report of two new cases

“…We reviewed reports of 36 cases of mosaic and nonmosaic trisomy 9 which resulted in a live birth or term stillbirth, in addition to our 2 previously unreported cases [Akatsuka et al, 1979;Anneren and Sedin, 1981;Bowen et al, 1974;Carpenter and Tomkins, 1982;Delicado et al, 1985;de Michelina et al, 1992;Diaz-Mares et al, 1990;Feingold and Atkins, 1973;Frydman et al, 1981;Ginsberg et al, 1989;Haslam et al, 1973;Herranz et al, 1987;Kaminker et al, 1985;Katayama et al, 1980;Kurnick et al, 1974;Levy et al, 1989;Lewandowski and Yunis, 1977;Mace et al, 1978;Mantagos et al, 1981;Marino et al, 1989;Pfeiffer and Muller, 1984;Qazi et al, 1977;Romain and Sullivan, 1983;Sanchez et al, 1982;Schinzel et al, 1974;Seabright et al, 1976;Sherer et al, 1992;Sutherland et al, 1976;Taslimi and Glass, 1990;Tropp and Currie, 1977;Wilroy et al, 1985;Wilson and Barr, 1983;Williams et al, 19851. Four prenatally diagnosed cases which did not result in term birth were also reviewed and will be discussed, but were not included in the data analysis [Franke et al, 1975;Frohlich, 1982;Schwartz et al, 1989;Zadeh et al, 19871.…”

“…0 1995 Wiley-Liss, Inc. Haslam et al, 1973;Herranz et al, 1987;Kaminker et al, 1985;Katayama et al, 1980;Kurnick et al, 1974;Levy et al, 1989;Lewandowski and Yunis, 1977;Mace et al, 1978;Mantagos et al, 1981;Marino et al, 1989;Pfeiffer and Muller, 1984;Qazi et al, 1977;Romain and Sullivan, 1983;Sanchez et al, 1982;Schinzel et al, 1974;Schwartz et al, 1989;Seabright et al, 1976;Sherer et al, 1992;Sutherland et al, 1976;Taslimi and Glass, 1990;Tropp and Currie, 1977;Wilroy et al, 1985;Wilson and Barr, 1983;Williams et al, 1985;Zadeh et al, 1987).…”

Two patients with trisomy 9 mosaicism

“…Trisomy 9 is an uncommon chromosomal abnormality first described by Feingold and Atkins. 1 In a majority of cases, since the first mosaic case reported by Haslam et al , 2 trisomy 9 has been present in the mosaic state. We present two patients with trisomy 9 mosaicism who survived longer than usually expected.…”