PMID: 8998528Aug 1, 1996Paper

Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
A Levy-MozziconacciN Philip

Abstract

Most of the children with Di George syndrome and 60% of patients with velocardiofacial syndrome exhibit a microdeletion within chromosome 22q11. The phenotypic expression of this chromosomal abnormality is highly variable. Forty-nine children, 0 to 15 years of age, were demonstrated as carriers of a 22q11 microdeletion. The main referral diagnoses were: Di George syndrome (19 cases), velocardiofacial syndrome (14 cases); congenital heart defect with dysmorphism (9 cases); hypoparathyroidism (2 cases). The microdeletion was detected by fluorescent in situ hybridization with probes specific of the 22q11 region. Facial dysmorphism was the only constant feature. A congenital heart defect was present in 84% of cases. Significant hypocalcemia was documented in 51% of cases and thymic hypo or agenesis in 83%. Significant immune deficiency was documented in nine cases. The most frequent associated defects were urinary tract malformations (8 cases). A cleft palate was present in height enfants but velopharyngeal insufficiency was almost constant. Two-thirds of children had psychomotor delay, and five children exhibited behavioral problems. Of the 35 couples of parents tested, eight mothers were found to be carriers of the deletion. For ...Continue Reading

Citations

Nov 22, 2017·American Journal of Medical Genetics. Part a·Jelle F HomansRené M Castelein
May 9, 2008·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·J BacchettaUNKNOWN pour la Réunion pluridisciplinaire de diagnostic anténatal en néphro-urologie

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