Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

Boyd, Patricia A.; Loane, Maria; Garne, Ester; Khoshnood, Babak; Dolk, Helen

doi:10.1038/ejhg.2010.148

Cited by 84 publications

(63 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In a recent European study of the EUROCAT working group, 0.054 triple X patients/1000 births were observed. 26 In our EA/TEF cohort, the incidence rate of Chromosome X changes in patients with EA/TEF E Brosens et al triple X syndrome is 1.12%, with an average maternal age of 30.8 years, which is 11 times higher than that in the estimated general population and 6.5 times higher than in the calculated incidence rate by Haverty et al 25 Guichet et al 27 reviewed prenatally and postnatally diagnosed 47,XXX karyotypes from 18 laboratories. Mental retardation or congenital malformations were described in over one-third of the 190 patients reported.…”

Section: Discussionmentioning

confidence: 99%

Structural and numerical changes of chromosome X in patients with esophageal atresia

et al. 2014

View full text Add to dashboard Cite

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a relatively common birth defect often associated with additional congenital anomalies such as vertebral, anal, cardiovascular, renal and limb defects, the so-called VACTERL association. Yet, little is known about the causal genetic factors. Rare case reports of gastrointestinal anomalies in children with triple X syndrome prompted us to survey the incidence of structural and numerical changes of chromosome X in patients with EA/TEF. All available (n ¼ 269) karyotypes of our large (321) EA/TEF patient cohort were evaluated for X-chromosome anomalies. If sufficient DNA material was available, we determined genome-wide copy number profiles with SNP array and identified subtelomeric aberrations on the difficult to profile PAR1 region using telomere-multiplex ligation-dependent probe amplification. In addition, we investigated X-chromosome inactivation (XCI) patterns and mode of inheritance of detected aberrations in selected patients. Three EA/TEF patients had an additional maternally inherited X chromosome. These three female patients had normal random XCI patterns. Two male EA/TEF patients had small inherited duplications of the XY-linked SHOX (Short stature HOmeoboX-containing) locus. Patients were small for gestational age at birth (oP5) and had additional, mostly VACTERL associated, anomalies. Triple X syndrome is rarely described in patients with EA/TEF and no duplications of the SHOX gene were reported so far in these patients. As normal patterns of XCI were seen, overexpression of X-linked genes that escape XCI, such as the SHOX gene, could be pathogenic by disturbing developmental pathways.

show abstract

Section: Discussionmentioning

confidence: 99%

Structural and numerical changes of chromosome X in patients with esophageal atresia

et al. 2014

View full text Add to dashboard Cite

show abstract

“…1 The most common chromosome abnormalities are trisomies 21, 18 and 13, and the sex chromosome abnormalities. 2 Little detailed information is available on rarer chromosome abnormalities diagnosed prenatally or in infancy.…”

Section: Introductionmentioning

confidence: 99%

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

et al. 2012

Self Cite

View full text Add to dashboard Cite

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for [2000][2001][2002][2003][2004][2005][2006] inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10 323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10 000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10 000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10 000 births, respectively. There were 1 737 RCA cases (17%), giving a prevalence of 7.4/10 000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10 000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

show abstract

“…This syndrome is found in 1 of 1.000 male births [5,6] even if other studies have reported a different prevalence [4,[7][8][9][10][11][12].…”

Section: Xyy Syndromementioning

confidence: 96%

“…First of all, the analysis of the literature shows that about the 75% of cases of Jacobs' Syndrome are not detected prenatally or postnatally [61], because these subjects often have an adequate mental and psychological development [70,71] and therefore often the diagnosis is accidental, delayed or even absent [5,61].…”

Section: Discussionmentioning

confidence: 99%

47, XYY Karyotype and Borderline Personality Disorder: An Italian Judicial Case and a Review of the Literature

Birkhoff¹

2015

J Child Adolesc Behav

View full text Add to dashboard Cite

During the 1960s and the 1970s, some studies postulated that Jacobs' Syndrome can lead to aggressive and/or criminal behavior, but the statistical certainty was questioned. In the 1990s new discoveries in neuroscience and genetics brought new attention to a possible biological component of deviance. In this context forensic psychiatrists were required to express opinions about a young Italian man afflicted by 47,XYY karyotype (Jacobs' Syndrome) and Borderline Personality Disorder who had frequent violent behaviors against his relatives, being therefore accused of "abuse against family members or partners" (art. 572 Italian Penal Code). The Court disposed for an evaluation of his mental conditions, his imputability and his possible social dangerousness, analyzing the influences on behavior from both his mental and genetic conditions.

show abstract

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

Cited by 84 publications

References 21 publications

Structural and numerical changes of chromosome X in patients with esophageal atresia

Structural and numerical changes of chromosome X in patients with esophageal atresia

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

47, XYY Karyotype and Borderline Personality Disorder: An Italian Judicial Case and a Review of the Literature

Contact Info

Product

Resources

About