A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism

Abstract

Triploidy is common in human pregnancies. It is detected in 1 to 2% of clinically recognized pregnancies and in approximately 15 to 20% of spontaneous abortions produced by chromosome anomalies. We report a premature liveborn girl (30 weeks of gestation) with microcephaly, facial dysmorphism and skeletal abnormalities who died at one day of age due to respiratory failure. The placenta showed partial hydatiform mole. Autopsy revealed no internal malformations. Cytogenetic analysis of 100 metaphases obtained from renal tissue culture revealed a 68,XX[73]/69,XXX[27] karyotype. To our knowledge this is the first report in the literature of 68,XX[73]/69,XXX[27] mosaicism in a liveborn infant.<br>A triploidia é uma anomalia cromossômica comum encontrada em 1 a 2% das gestações clinicamente reconhecidas e em cerca de 15 a 20% dos abortos espontâneos de causa cromossômica. Em aproximadamente 5% dos casos, uma aneuploidia pode estar também associada (Boué et al., 1985). Descrevemos um recém-nascido do sexo feminino, prematuro (30 semanas de idade gestacional), com microcefalia, dismorfias faciais e alterações de membros, que foi a óbito com 1 dia de vida por insuficiência respiratória. O exame anátomo-patológico da placenta revelou alterações compatíveis com degeneração molar. A necrópsia da criança não evidenciou malformações internas. A análise citogenética de 100 metáfases, obtidas a partir de cultura de tecido renal, evidenciou cariótipo 68,XX[73]/69,XXX[27]. Apenas 9 casos de triploidia 68,XX foram descritos anteriormente, sendo 7 em abortos, 1 em feto de 21 semanas e 1 em recém-nascido a termo. Consideramos que este estudo seja o primeiro da literatura relatando a ocorrência de mosaicismo 69,XXX/68,XX em um recém-nascido vivo. Os autores discutem os achados clínicos e os possíveis mecanismos envolvidos nesta aberração cromossômica

Gastrointestinal Manifestations in Diploid/Triploid Mixoploidy

“…The present patient differs from most other reports of DTM in that her triploid cell line is not strictly triploid; such has been reported in only few other cases (6,13). Furthermore, Acosta et al (17) reported a case of a fetus whose cytogenetic analysis of kidney cells revealed 68,XX/69,XXX mosaicism. Analysis of kidney cells was performed because blood culture was contaminated.…”

“…The authors postulated that the original zygotic lineage may have been 69,XXX with loss of a sex chromosome at an early cleavage division. Skin biopsy revealed mosaicism for a 68,XX cell line (17). Most reported cases of DTM have a 46,XX/69,XXX genotype.…”

Rheological behavior and mechanical properties of high‐density polyethylene blends with different molecular weights

“…Structural anomalies were identified in four cases (16.6%): one case of de novo partial monosomy 21 q [Riegel et al, 2001]; one case of double partial trisomy 9pter‐q2–16q2‐16qter mat [Piram et al, 2003]; one case of de novo balanced Robertsonian translocation 14q/21q; and, one case of 46, XX, add (6) (q27). Furthermore, two cases (8.4%) were triploidies: 69,XXY and 68,XXX [Acosta et al, 1998]. The remaining case was a mosaic with unidentified marker (47,XY,+ mar/46,XY).…”

A selective clinical cytogenetic study in prenatal and pediatric pathology: A comparison with unselected studies

“…Structural anomalies were identified in four cases (16.6%): one case of de novo partial monosomy 21 q [Riegel et al, 2001]; one case of double partial trisomy 9pter-q2-16q2-16qter mat [Piram et al, 2003]; one case of de novo balanced Robertsonian translocation 14q/21q; and, one case of 46, XX, add (6) (q27). Furthermore, two cases (8.4%) were triploidies: 69,XXY and 68,XXX [Acosta et al, 1998]. parental karyotypes not studied, and one case of karyotype 47, XX,þ marc (14%)/46,XX (86%) with parental karyotype not studied.…”