“Double Trouble” or an Amplification of the Triploidy Phenotype?

Triploidy occurs in about 1 to 3% of clinically recognizable pregnancies and is typically associated with growth restriction, craniofacial dysmorphisms and congenital anomalies. We report the case of a female fetus with prenatal diagnosis of complete triploidy, polysplenia, bilateral cleft-palate, horseshoe-kidneys and bilateral club-feet. Whereas bilateral cleft-palate, horseshoe-kidneys and bilateral club feet are known to be part of the triploidy-associated malformation spectrum, polysplenia, which usually occurs as part of the heterotaxia spectrum, has never been associated with triploidy. An amplification of the triploidy phenotype or a “double trouble”.

[1]  J. Wax,et al.  Pregnancy Complicated by Triploidy: A Comparison of the Three Karyotypes , 2009, American journal of perinatology.

[2]  J. Wirbelauer,et al.  Heterotaxy Syndrome – Asplenia and Polysplenia as Indicators of Visceral Malposition and Complex Congenital Heart Disease , 2005, Neonatology.

[3]  W. Robinson,et al.  Phenotype of triploid embryos , 2005, Journal of Medical Genetics.

[4]  D. Warburton,et al.  Trisomy recurrence: a reconsideration based on North American data. , 2004, American journal of human genetics.

[5]  S. Langlois,et al.  Parental origin of triploidy in human fetuses: evidence for genomic imprinting , 1993, Human Genetics.

[6]  C. Cooke‐Yarborough,et al.  Karyotype, phenotype and parental origin in 19 cases of triploidy , 2001, Prenatal diagnosis.

[7]  W. Robinson,et al.  The origin of abnormalities in recurrent aneuploidy/polyploidy. , 2001, American journal of human genetics.

[8]  S. Langlois,et al.  Parental and meiotic origin of triploidy in the embryonic and fetal periods , 2000, Clinical genetics.

[9]  R. van Praagh,et al.  Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures. , 2000, The American journal of cardiology.

[10]  K. Kosaki,et al.  27 – Genetics of Human Left-Right Axis Malformations , 1999 .

[11]  K. Kosaki,et al.  Genetics of human left-right axis malformations. , 1998, Seminars in cell & developmental biology.

[12]  G. Gillessen‐kaesbach,et al.  Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? , 1996, American journal of medical genetics.

[13]  D. Kalousek,et al.  Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the extra haploid set. , 1991, American journal of medical genetics.

[14]  U. Surti,et al.  Morphologic anomalies in triploid liveborn fetuses. , 1983, Human pathology.