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Helsinki, Finland

Jokela M.,University of Helsinki | Rotkirch A.,Vaestoliitto | Rickard I.J.,University of Sheffield | Pettay J.,University of Turku | Lummaa V.,University of Sheffield
Behavioral Ecology | Year: 2010

Evolutionary theory predicts that males seek more sexual partners than females because of their higher fitness benefits from such a reproductive strategy. Accordingly, variance in numbers of partners and offspring is expected to be greater and association between mating and reproductive success to be stronger in males. Studies testing key predictions of this hypothesis in humans are lacking. Using data of 3700 men and 4010 women living in contemporary United States, we examined sex differences in the variance of number of spouses and offspring and in the association between spouse number and number of offspring. The results suggested a stronger selective advantage of serial monogamy in men than in women. Variance in spouse and offspring number was, respectively, 5% and 10% higher in men. In addition, the association between mating and reproductive success was stronger in men, so that men with 3 or more consecutive spouses had 19% more children than men with only spouse, whereas spouse number beyond the first partner was not associated with number of children in women. When the sample was stratified by ethnic group, the sex differences were stronger among Black and Hispanic participants than among White participants. © 2010 The Author. Source

Avela K.,Vaestoliitto | Valanne L.,University of Helsinki | Helenius I.,University of Turku | Makitie O.,University of Helsinki
American Journal of Medical Genetics, Part A | Year: 2011

Hajdu-Cheney syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS. © 2011 Wiley-Liss, Inc. Source

Siggberg L.,University of Helsinki | Sirpa A.-M.,Rinnekoti Foundation Rehabilitation Home for Children | Tarja L.,University of Helsinki | Kristiina A.,Vaestoliitto | And 11 more authors.
BMC Medical Genetics | Year: 2012

Background: Diagnostic analysis of patients with developmental disorders has improved over recent years largely due to the use of microarray technology. Array methods that facilitate copy number analysis have enabled the diagnosis of up to 20% more patients with previously normal karyotyping results. A substantial number of patients remain undiagnosed, however.Methods and Results: Using the Genome-Wide Human SNP array 6.0, we analyzed 35 patients with a developmental disorder of unknown cause and normal array comparative genomic hybridization (array CGH) results, in order to characterize previously undefined genomic aberrations. We detected no seemingly pathogenic copy number aberrations. Most of the vast amount of data produced by the array was polymorphic and non-informative. Filtering of this data, based on copy number variant (CNV) population frequencies as well as phenotypically relevant genes, enabled pinpointing regions of allelic homozygosity that included candidate genes correlating to the phenotypic features in four patients, but results could not be confirmed.Conclusions: In this study, the use of an ultra high-resolution SNP array did not contribute to further diagnose patients with developmental disorders of unknown cause. The statistical power of these results is limited by the small size of the patient cohort, and interpretation of these negative results can only be applied to the patients studied here. We present the results of our study and the recurrence of clustered allelic homozygosity present in this material, as detected by the SNP 6.0 array. © 2012 Siggberg et al.; licensee BioMed Central Ltd. Source

Avela K.,Vaestoliitto | Aktan-Collan K.,Vaestoliitto | Aktan-Collan K.,University of Helsinki | Horelli-Kuitunen N.,Medix Laboratories Ltd. | And 2 more authors.
American Journal of Medical Genetics, Part A | Year: 2011

Recently, three children with a microduplication in 17p13 including the PAFAH1B1 gene that encodes LIS1 were reported. LIS1 overexpression has earlier been shown to affect brain development by causing migrational defects and reductions in brain volume [Bi et al., 2009]. Here, we report an additional patient with a microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 gene, that was inserted into the long arm of chromosome 4. The patient had psychomotor and growth retardation, dysmorphic features, small ventricular septal defect (VSD), and immunoglobulin abnormality. Only subtle abnormalities in brain MRI scan were seen. Interestingly, the facial features of our patient closely resemble those previously reported in 17p trisomy patients. © 2011 Wiley-Liss, Inc. Copyright © 2011 Wiley-Liss, Inc.. Source

Luukkonen T.M.,Institute for Molecular Medicine Finland FIMM | Luukkonen T.M.,Finnish National Institute for Health and Welfare | Poyhonen M.,University of Helsinki | Palotie A.,Institute for Molecular Medicine Finland FIMM | And 12 more authors.
Journal of Medical Genetics | Year: 2012

Background: Balanced chromosomal rearrangements occasionally have strong phenotypic effects, which may be useful in understanding pathobiology. However, conventional strategies for characterising breakpoints are laborious and inaccurate. We present here a proband with a thoracic aortic aneurysm (TAA) and a balanced translocation t(10;11) (q23.2;q24.2). Our purpose was to sequence the chromosomal breaks in this family to reveal a novel candidate gene for aneurysm. Methods and results: Intracranial aneurysm (IA) and TAAs appear to run in the family in an autosomal dominant manner: After exploring the family history, we observed that the proband's two siblings both died from cerebral haemorrhage, and the proband's parent and paren's sibling died from aortic rupture. After application of a genome-wide paired-end DNA sequencing method for breakpoint mapping, we demonstrate that this translocation breaks intron 1 of a splicing isoform of Neurotrimin at 11q25 in a previously implicated candidate region for IAs and AAs (OMIM 612161). Conclusions: Our results demonstrate the feasibility of genome-wide paired-end sequencing for the characterisation of balanced rearrangements and identification of candidate genes in patients with potentially disease-associated chromosome rearrangements. The family samples were gathered as a part of our recently launched National Registry of Reciprocal Balanced Translocations and Inversions in Finland (n=2575), and we believe that such a registry will be a powerful resource for the localisation of chromosomal aberrations, which can bring insight into the aetiology of related phenotypes. Source

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