Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
Fifteen children with autosomal reciprocal translocations were found in an incidence study of chromosome aberrations among 11,148 consecutively liveborn children in a Danish Maternity Hospital (1.34 per 1,000). The segregation rate of the balanced forms was 60% and that of unbalanced forms 4%; the frequency of familial cases was 73%. None of the probands or their relatives who carried the balanced translocation had any physical or mental abnormalities which could be associated with the chromosome aberration. We found two children with unbalanced translocations among the 45 relatives examined, but more studies of unselected population groups are needed before any segregation rates for unbalanced derivatives of autosomal reciprocal translocations can be estimated. We found a significantly higher frequency of abortions, stillbirths and perinatal deaths in the progeny of carriers with the translocation, compared with non-carriers in the same families. The unbalanced forms of autosomal reciprocal translocations in most cases are probably not compatible with the development of a foetus to a liveborn, healthy child. Fifteen children with 13/14 translocation were found among 11,148 consecutively liveborn children. Incidence, segregation rates and type of translocation are discussed. Fertility and risk for carriers of D/D translocations of producing children with autosomal trisomy are discussed.
Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis and ptosis as well as other distinctive facial traits. We present a girl with dysmorphic features, an atrial septal defect, and developmental delay. Previous genetic testing (array-CGH, 22q11 deletion, <i>PTPN11</i> and <i>MLL2 </i>mutation analysis) gave normal results. We performed whole-exome sequencing (WES) and identified a heterozygous nonsense mutation in the <i>KAT6B</i> gene, NM_001256468.1: c.4943C>G (p.S1648*). The mutation led to a premature stop codon and occurred de novo. <i>KAT6B</i> sequence variants have previously been identified in patients with SBBYSS, and the phenotype of the girl is similar to other patients diagnosed with SBBYSS. This case report provides additional evidence for the correlation between the <i>KAT6B</i> mutation and SBBYSS. If a patient is suspected of having a blepharophimosis syndrome or SBBYSS, we recommend sequencing the <i>KAT6B</i> gene. This is a further example showing that WES can assist diagnosis.
Growing rates of childhood obesity globally create concern for individuals’ health outcomes and demands on health systems. While many policy approaches focus on macro-level interventions, we examine how the type of stability of a family structure might provide opportunities for policy interventions at the micro level. We examine the association between family structure trajectories and childhood overweight and obesity across three Anglophone countries using an expanded set of eight family structure categories that capture biological relationships and instability, along with potential explanatory variables that might vary across family trajectories and provide opportunities for intervention, including access to resources, family stressors, family structure selectivity factors, and obesogenic correlates. We use three datasets that are representative of children born around the year 2000 and aged 11 years old in Australia (n = 3329), the United Kingdom (n = 11,542), and the United States (n = 8837) and nested multivariate multinomial logistic regression models. Our analyses find stronger relationships between child overweight and obesity and family structure trajectories than between child obesity and obesogenic factors. Children in all three countries are sensitive to living with cohabiting parents, although in Australia, this is limited to children whose parents have been cohabiting since before their birth. In the UK and US, parents starting their cohabitation after the child’s birth are more likely to have children who experience obesity. Despite a few differences across cross-cultural contexts, most of the relationship between family structures and child overweight or obesity is connected to differences in families’ access to resources and by the types of parents who enter into these family structures. These findings suggest policy interventions at the family level that focus on potential parents’ education and career prospects and on income support rather than interventions like marriage incentives.
The purpose of this study is to understand the relationship between family structure and maternal depressive symptoms (MDS) in Australia, the United Kingdom, and the United States. Family structures that involve transitions across life’s course, such as divorce, can alter access to resources and introduce new stressors into family systems. Using the stress process model, we examine the links between family structure, stress, resources, and MDS. Using nationally representative data from Australia, the United Kingdom, and the United States and cross-sectional models for each country, we find that family structure may influence MDS differently in the UK than it does in Australia or, especially, the US. Specifically, mothers in the UK who either enter or leave a marriage after the birth of their child experience increased levels of MDS compared with mothers who do not experience a similar transition. These findings demonstrate that the effects of family structure transitions across life’s course may vary according to the country context as well as to the mother’s access to resources and exposure to stress. Considering that the effects of family structure transitions are not universal, this indicates that greater attention should be paid to the country contexts families exist in and the effects that public policies and social safety nets can have on MDS.
