Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

Authors

  • Maria Luisa Guzman,

    1. Center for Human Genetics, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo, Santiago, Chile
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  • Iris Delgado,

    1. Center for Epidemiology and Public Health Policy, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo
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  • Guillermo Lay-Son,

    1. Center for Human Genetics, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo, Santiago, Chile
    2. Unidad de Gestión Clínica del Niño, Hospital Padre Hurtado, Santiago, Chile
    3. Unidad de Genética, Hospital Luis Calvo Mackenna
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  • Edward Willans,

    1. Center for Human Genetics, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo, Santiago, Chile
    2. Department of Life Sciences, Imperial College, London, England
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  • Alonso Puga,

    1. Center for Human Genetics, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo, Santiago, Chile
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  • Gabriela M. Repetto

    Corresponding author
    1. Center for Human Genetics, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo, Santiago, Chile
    2. Center for Epidemiology and Public Health Policy, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo
    3. Department of Pediatrics, Clinica Alemana, Santiago, Chile
    • Center for Human Genetics, Facultad de Medicina, Clinica Alemana-Universidad del Desarrollo, Av Las Condes, 12438 Santiago 7710162, Chile.
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  • How to Cite this Article: Guzman ML, Delgado I, Lay-Son G, Willans E, Alonso P, Repetto GM. 2012. Growth in Chilean infants with chromosome 22q11 microdeletion syndrome. Am J Med Genet Part A 158A: 2682–2686.

Abstract

Chromosome 22q11 microdeletion syndrome has a wide range of clinical manifestations including congenital heart malformations, palatal defects, endocrine abnormalities, immunologic deficits, learning difficulties, and an increased predisposition to psychiatric disease. Short stature and poor weight gain in infancy are common findings and are usually seen in the absence of hormone deficiencies. An increased frequency of obesity has been observed in adolescents and adults. We generated gender-specific growth curves from 0 to 24 months of age, based on 479 length and 475 weight measurements from 138 Chilean patients with 22q11 deletion. Final adult height and weight on 25 individuals were analyzed. The 10th, 50th, and 90th centile-smoothed curves for infants were built using the LMS method and compared with World Health Organization Child Growth Standards. The 50th centile for length in the deleted patients was slightly lower than the 10th centile of WHO standards in boys and girls. The same was observed for weight, although a trend toward a gradual increase near 2 years of age was observed, particularly in boys. Average adult height was 152 cm (ranging from 143 to 162 cm) in females, corresponding to the 10th centiles of WHO standards, and 166 cm for males (160–172 cm), at the 20th centile of WHO standards. A third of the adult females and none of the males had body mass index (BMI) greater than 25. The curves should be useful to monitor growth in infants with 22q11 microdeletion syndrome. © 2012 Wiley Periodicals, Inc.

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