Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

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 g...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2012-11, Vol.158A (11), p.2682-2686
Main Authors: Guzman, Maria Luisa, Delgado, Iris, Lay-Son, Guillermo, Willans, Edward, Puga, Alonso, Repetto, Gabriela M.
Format: Article
Language:English
Subjects:
22q11 deletion
22q11 Deletion Syndrome - diagnosis
Adolescence
Biological and medical sciences
Body Weights and Measures
Cardiology. Vascular system
Child, Preschool
Chile
congenital heart disease
Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava
DiGeorge syndrome
Female
Growth Charts
growth curves
Heart
Humans
Infant
Infant, Newborn
Male
Medical genetics
Medical sciences
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.35525