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Talipes equinovarus (clubfoot) is a skeletal anomaly of the embryo’s legs, with a frequency of 1-3:1000 living born babies. It may occur as an independent anomaly, or as part of a syndrome with concomitant chromosomal abnormalities.
XYY syndrome is a quite rare sex chromosomal abnormality with 47, XYY karyotype. Prenatal diagnosis is usually accide...
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... It does not result from increased parental age. 1 Fetal Jacob syndrome does not have a specific phenotype although a few structural associations have been reported. [1][2][3] Prenatal cases are usually picked up accidentally on cell free fetal DNA or karyotype/microarray offered for other indications. 4 The case presented highlights an uncommon association of pulmonary atresia with ventricular septal defect with Jacob syndrome in a male fetus. ...
... As a matter of fact, this trisomy has been related to venous leg ulcers (Gattringer, Scheurecker, Höpfli, & Müller, 2010), morphological anomalies in different part of the body, such as anomalies in palatal and mandibular arch morphology (Laine & Alvesalo, 1993), roots of permanent teeth longer and more voluminous (Alvesalo & Varrela, 1991;Lähdesmäki & Alvesalo, 2004), clubfeet (Athanatos et al., 2009) and with Marfan syndrome (Lebreiro, Martins, Machado, & Abreu-Lima, 2012). Skeleton and vertebral anomalies have also been described (Mutesa, Jamar, Hellin, Pierquin, & Bours, 2012;Nielsen & Christensen, 1974), besides cardiovascular disease (Veronika & Imre, 1977), in one case associated with kidney's malformations (Amador, Martins, Massa, & Oliveira Santos, 2007), which are more frequent, particularly kidney's agenesis and cystic renal dysplasia (Rudnik-Schoneborn, Shuler, Schwanitz, Hansmann, & Zerres, 1996). ...
The Jacobs’ syndrome consists in the presence of a Y chromosome in excess. The prevalence of XYY sex chromosome abnormalities in newborns is as high as 1:1000, but they are often unidentified because they are not necessarily associated with gross physical or cognitive impairments, and so they may never come to medical attention. The only common and obvious features are high stature and a strong build. During the 1960s and the 1970s, some studies postulated that the Jacobs’ syndrome could lead to aggressive behavior, but the statistical certainty was questioned. More recent developments in genetics and neuroimaging have led to new publications on the relationship between the presence of an extra Y chromosome and social function, trying to explain the possible increasing tendency to commit a crime and to search for a biological nature of human behavior and deviant conducts. The authors conduct a review of the literature of the last 50 years concerning this chromosome trisomy, focusing on a possible connection between 47,XYY and deviance. According to the results of these studies, the authors conclude that there is no noteworthy evidence that a person affected by Jacobs’ syndrome has to necessarily turn into an antisocial or deviant individual.
