Partial trisomy 20q due to paternal t(8;20) translocation: Case report and review of the literature

Abstract

In this report we present a malformed female newborn with partial trisomy 20q who was the unbalanced product of a paternal 8p/20q translocation (46,XY,t(8;20) (p23.1;q11)).

Uniform deposition of protein incorporated mineral layer on three‐dimensional porous polymer scaffolds

“…Several patients with larger, essentially “pure” duplications of 20q, from 20q11 to 20qter, have been described [Pierquin et al, 1988; Waters et al, 1990]. Interestingly, the case reported by Pierquin et al [1988] had almost the same cardiac defects seen in our patient, including complete atrioventicular canal, transposition of the great vessels, and pulmonary stenosis and died soon after birth. However, the patient reported by Waters et al [1990] had only minor facial anomalies along with developmental delays.…”

Uniform deposition of protein incorporated mineral layer on three‐dimensional porous polymer scaffolds

“…Several patients with larger, essentially “pure” duplications of 20q, from 20q11 to 20qter, have been described [Pierquin et al, 1988; Waters et al, 1990]. Interestingly, the case reported by Pierquin et al [1988] had almost the same cardiac defects seen in our patient, including complete atrioventicular canal, transposition of the great vessels, and pulmonary stenosis and died soon after birth. However, the patient reported by Waters et al [1990] had only minor facial anomalies along with developmental delays.…”

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications

“…While pericentric inversions account for the five previous cases mentioned, most reported duplications of chromosome 20 are due to malsegregation of a parental translocation [Fawcett et al, 1975;Sanchez et al, 1977;Pawlowitzki et al, 1979;Nielson et al, 1986 (six patients); Sax et al, 1986;Pierquin et al, 1988;Herens et al, 1990;Waters et al, 1990;Plotner et al, 2002;Addor et al, 2002]. Two patients have been reported to have a pure distal 20q duplication in the same region as our patient [Iglesias et al, 2006;Blanc et al, 2008].…”

“…Cytogenetic analysis Fawcett et al [1975] 47,XX,þder(14),t(14;20)(q22;q13)mat Sanchez et al [1977] 47,XX,þder(21),t(20;21)(q13;q21.4)mat Pawlowitzki et al [1979] 46,XX,der(16),t(16;20)(p13;q11)mat Nielsen et al [1986] der(3)t(3;20)(p25;q13.1) (6 subjects) Sax et al [1986] 46,XY,der(14)t(14;20)t(q32.3;q13.13)mat Pierquin et al [1988] 46,XX,der(8)t(8;20)(p23.1;q11)pat Herens et al [1990] 46,XX,der(18)t(18;20)(q23.2;q13.1)mat Waters et al [1990] 46,XX,der(X)t(X;20)(q28;q11.2)mat Plotner et al [2002] 46,XY,der(4)t(14;20)(q35;q13.1) Addor et al [2002] 46,XX,der(2)t(2;20)(p25.3;q13.1)pat Grange et al [2005] 46,XX,rec (20)dup (20q)inv (20)(p13;q13.1)pat Wanderley et al [2005] 46,XY,dup(20)(q11.2;q12) *not overlapping with our patient Iglesias et al [2006] 46,XY,dup(20)(q13.2;q13.2) Blanc et al [2008] 46,XY,dup(20)(q13.2;q13.2) Stevens et al [2009] rec (20)dup (20q)inv (20) (20q)inv (20) (p13q13.12)pat…”

Trisomy 20q. A new case and further phenotypic delineation

“…When a small number of cases are known, the only potentially informative unbalanced subjects are those with telomeric breakpoints on the "receiver" chromosome (assuming that the extreme portion of the chromosome only concerns a very few genes). Table 2 summarizes the clinical data of our case compared with 3 previous reports fitting those criteria (Pawlowitzki et al 1979, Pierquin et al 1988, Sax et al 1986. Most consistent features include normal intrauterine growth, prominent forehead, small eyes, large ears, hypoplastic alae nasi or antevcrted nostrils, prominent upper lip with small and sometimes dimpled chin, short neck and heart defect.…”

Uniform deposition of protein incorporated mineral layer on three‐dimensional porous polymer scaffolds

“…Several patients with larger, essentially “pure” duplications of 20q, from 20q11 to 20qter, have been described [Pierquin et al, 1988; Waters et al, 1990]. Interestingly, the case reported by Pierquin et al [1988] had almost the same cardiac defects seen in our patient, including complete atrioventicular canal, transposition of the great vessels, and pulmonary stenosis and died soon after birth. However, the patient reported by Waters et al [1990] had only minor facial anomalies along with developmental delays.…”

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications

“…While pericentric inversions account for the five previous cases mentioned, most reported duplications of chromosome 20 are due to malsegregation of a parental translocation [Fawcett et al, 1975;Sanchez et al, 1977;Pawlowitzki et al, 1979;Nielson et al, 1986 (six patients); Sax et al, 1986;Pierquin et al, 1988;Herens et al, 1990;Waters et al, 1990;Plotner et al, 2002;Addor et al, 2002]. Two patients have been reported to have a pure distal 20q duplication in the same region as our patient [Iglesias et al, 2006;Blanc et al, 2008].…”

“…Cytogenetic analysis Fawcett et al [1975] 47,XX,þder(14),t(14;20)(q22;q13)mat Sanchez et al [1977] 47,XX,þder(21),t(20;21)(q13;q21.4)mat Pawlowitzki et al [1979] 46,XX,der(16),t(16;20)(p13;q11)mat Nielsen et al [1986] der(3)t(3;20)(p25;q13.1) (6 subjects) Sax et al [1986] 46,XY,der(14)t(14;20)t(q32.3;q13.13)mat Pierquin et al [1988] 46,XX,der(8)t(8;20)(p23.1;q11)pat Herens et al [1990] 46,XX,der(18)t(18;20)(q23.2;q13.1)mat Waters et al [1990] 46,XX,der(X)t(X;20)(q28;q11.2)mat Plotner et al [2002] 46,XY,der(4)t(14;20)(q35;q13.1) Addor et al [2002] 46,XX,der(2)t(2;20)(p25.3;q13.1)pat Grange et al [2005] 46,XX,rec (20)dup (20q)inv (20)(p13;q13.1)pat Wanderley et al [2005] 46,XY,dup(20)(q11.2;q12) *not overlapping with our patient Iglesias et al [2006] 46,XY,dup(20)(q13.2;q13.2) Blanc et al [2008] 46,XY,dup(20)(q13.2;q13.2) Stevens et al [2009] rec (20)dup (20q)inv (20) (20q)inv (20) (p13q13.12)pat…”

Trisomy 20q. A new case and further phenotypic delineation

“…When a small number of cases are known, the only potentially informative unbalanced subjects are those with telomeric breakpoints on the "receiver" chromosome (assuming that the extreme portion of the chromosome only concerns a very few genes). Table 2 summarizes the clinical data of our case compared with 3 previous reports fitting those criteria (Pawlowitzki et al 1979, Pierquin et al 1988, Sax et al 1986. Most consistent features include normal intrauterine growth, prominent forehead, small eyes, large ears, hypoplastic alae nasi or antevcrted nostrils, prominent upper lip with small and sometimes dimpled chin, short neck and heart defect.…”

Uniform deposition of protein incorporated mineral layer on three‐dimensional porous polymer scaffolds

“…Several patients with larger, essentially “pure” duplications of 20q, from 20q11 to 20qter, have been described [Pierquin et al, 1988; Waters et al, 1990]. Interestingly, the case reported by Pierquin et al [1988] had almost the same cardiac defects seen in our patient, including complete atrioventicular canal, transposition of the great vessels, and pulmonary stenosis and died soon after birth. However, the patient reported by Waters et al [1990] had only minor facial anomalies along with developmental delays.…”

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications

“…While pericentric inversions account for the five previous cases mentioned, most reported duplications of chromosome 20 are due to malsegregation of a parental translocation [Fawcett et al, 1975;Sanchez et al, 1977;Pawlowitzki et al, 1979;Nielson et al, 1986 (six patients); Sax et al, 1986;Pierquin et al, 1988;Herens et al, 1990;Waters et al, 1990;Plotner et al, 2002;Addor et al, 2002]. Two patients have been reported to have a pure distal 20q duplication in the same region as our patient [Iglesias et al, 2006;Blanc et al, 2008].…”

“…Cytogenetic analysis Fawcett et al [1975] 47,XX,þder(14),t(14;20)(q22;q13)mat Sanchez et al [1977] 47,XX,þder(21),t(20;21)(q13;q21.4)mat Pawlowitzki et al [1979] 46,XX,der(16),t(16;20)(p13;q11)mat Nielsen et al [1986] der(3)t(3;20)(p25;q13.1) (6 subjects) Sax et al [1986] 46,XY,der(14)t(14;20)t(q32.3;q13.13)mat Pierquin et al [1988] 46,XX,der(8)t(8;20)(p23.1;q11)pat Herens et al [1990] 46,XX,der(18)t(18;20)(q23.2;q13.1)mat Waters et al [1990] 46,XX,der(X)t(X;20)(q28;q11.2)mat Plotner et al [2002] 46,XY,der(4)t(14;20)(q35;q13.1) Addor et al [2002] 46,XX,der(2)t(2;20)(p25.3;q13.1)pat Grange et al [2005] 46,XX,rec (20)dup (20q)inv (20)(p13;q13.1)pat Wanderley et al [2005] 46,XY,dup(20)(q11.2;q12) *not overlapping with our patient Iglesias et al [2006] 46,XY,dup(20)(q13.2;q13.2) Blanc et al [2008] 46,XY,dup(20)(q13.2;q13.2) Stevens et al [2009] rec (20)dup (20q)inv (20) (20q)inv (20) (p13q13.12)pat…”

Trisomy 20q. A new case and further phenotypic delineation

“…When a small number of cases are known, the only potentially informative unbalanced subjects are those with telomeric breakpoints on the "receiver" chromosome (assuming that the extreme portion of the chromosome only concerns a very few genes). Table 2 summarizes the clinical data of our case compared with 3 previous reports fitting those criteria (Pawlowitzki et al 1979, Pierquin et al 1988, Sax et al 1986. Most consistent features include normal intrauterine growth, prominent forehead, small eyes, large ears, hypoplastic alae nasi or antevcrted nostrils, prominent upper lip with small and sometimes dimpled chin, short neck and heart defect.…”