Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

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 genderspecific 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 centilesmoothed 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.

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways

“…This is one of the most common genomic alterations in humans, with an estimated frequency of 1:2000-1:4000 live births and a markedly variable phenotypic expression, leading to difficult diagnosis based on clinical grounds (26). Short stature during childhood has been described in several clinical series, with frequencies ranging from 10 to 60% and w26% of these short children being born SGA (31). Among the 49 coding genes deleted in patient 1, 24 have functions in cell cycle, developmental process, and/or cell growth pathways.…”

Practical guidelines for managing adults with 22q11.2 deletion syndrome

“…Obesity has been reported in up to 35% of individuals affected with 22q11.2DS, 9 often with onset during childhood or the teenage years 49 and sometimes with rapid weight gain. Obesity and antipsychotic medication use are known predisposing factors for the development of type 2 diabetes mellitus, metabolic syndrome, and nonalcoholic fatty liver, the prevalences of which in 22q11.2DS are as yet unknown.…”

Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases

“…8) Another paper reported that final adult heights were 166 cm and 152 cm, respectively. 7) Two patients of this report were shorter than these reference values. These two cases had low BMD with or without hypoparathyroidism and hypocalcemia.…”

“…However, it is unclear whether short stature is an intrinsic manifestation of this syndrome, or whether it is secondary to other clinical features. 7,8) Herein we report three cases of 22q11.2DS diagnosed by whole genome array comparative genomic hybridization mg/dL), and low values for parathyroid hormone (8 pg/mL; 11-62 pg/mL), and 25-OH-Vitamin D 3 (2.1 ng/mL; 9.0-37.6 ng/mL). She had left kidney agenesis and hearing impairment in both ears (right: 50 dB, left: 40 dB).…”