The aim of this study is to evaluate the prevalence of overweight and obesity in a sample of children who were exclusively or predominantly breastfed for at least 6 months compared to Czech references that were constructed based on a representative sample of children, regardless of their mode of feeding. Between 2008 and 2011, a longitudinal study on the growth of breastfed infants was carried out in the Czech Republic. Forty-three GP pediatricians addressed parents at 18-month preventive examinations and collected data on the families' socio-economic conditions and the infants' feeding conditions. The children were measured (length, weight, and head circumference), and anthropometric measurements from 10 previous preventive examinations were obtained from the health records. Out of the collected 1775 questionnaires, 960 children were selected according to the criteria of the WHO Multicentre Growth Reference Study. For the purpose of this study, 799 children who were exclusively or predominantly breastfed for at least 6 months were selected. We found that the proportions of children who were classified as overweight (>90th percentile) or obese (>97th percentile) at 6, 12, and 18-month examinations were far below the proportions of the Czech references. An update of the Czech references and growth charts is highly recommended by GP pediatricians for the valid assessment of growth and nutritional status, including a screening of overweight and obesity in primary preventive health care.

• Klíčová slova
• breastfed infants, growth charts, obesity, overweight, prevalence, primary health care,
• MeSH
• kojenec MeSH
• kojení * MeSH
• lidé MeSH
• longitudinální studie MeSH
• novorozenec MeSH
• nutriční stav MeSH
• obezita dětí a dospívajících epidemiologie   prevence a kontrola   MeSH
• ochranné faktory MeSH
• prevalence MeSH
• růstové grafy MeSH
• vývoj dítěte MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

We report two unrelated patients with overlapping chromosome 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental delay, microcephaly and mild dysmorphic facial features, and patient 2 with autism spectrum disorder, borderline cognitive abilities, deficits in attention and executive functions and mild dysmorphic facial features. The mother and maternal grandmother of patient 1 were healthy carriers of the deletion. Previously, 2q13 deletions were reported in 27 patients, and the interpretation of its clinical significance varied. Our findings support that the 2q13 deletion is associated with a developmental delay syndrome manifesting with variable expressivity and reduced penetrance which poses a challenge for genetic counselling as well as the clinical recognition of 2q13 deletion patients.

• Klíčová slova
• 2q13 deletion, BCL2L11, Developmental delay, FBLN7, Facial dysmorphism, TMEM87B, aCGH,
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH