Abstract
The phenotypic variability associated with 22q11.2 deletion syndrome (22q11.2DS) is well known. In the present study, the cases of three unrelated adult patients with chromosome 22q11.2DS and nearly normal features are described, along with their reproductive histories. Chromosomal analysis with fluorescent in situ hybridisation and genomic DNA analysis by microarrays were performed, as well as a clinical examination. The three patients were found to possess an identical breakpoint deletion at 22q11.2 by high-density whole-genome single nucleotide polymorphism microarray analysis. The patients had histories of two foetuses/infants with congenital heart defects. The underlying aetiology for the discordance in the phenotype in these patients is discussed. These observations provide additional data useful for patient counselling and guidelines for 22q11.2 clinical screening.
Highlights
Velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) is caused by a 1.5‐3‐Mb microdeletion of chromosome 22q11.2, and is frequently known as 22q11.2 deletion syndrome (22q11.2DS) [Mendelian Inheritance in Man (MIM) no. 188400/192430]
Mikhail et al [9] suggested that the recurrent distal 22q11.2 microdeletions do not represent a single clinical entity, and they proposed categorising these deletions into three types according to their genomic position
A 31‐year‐old male without underlying disease sought genetic counselling due to adverse reproductive outcomes. The patient and his wife were normal and non‐consanguineous, and there was no familial history of congenital malformations. His wife had one foetus with a ventricular septal defect (VSD) and a normal chromosome karyotype analysis; the foetus was not tested for the 22q11.2 microdeletion
Summary
Velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) is caused by a 1.5‐3‐Mb microdeletion of chromosome 22q11.2, and is frequently known as 22q11.2 deletion syndrome (22q11.2DS) [Mendelian Inheritance in Man (MIM) no. 188400/192430]. 22q11.2DS is the most frequent interstitial deletion in humans, this syndrome presents a wide phenotypic spectrum with >180 clinical manifestations. Mikhail et al [9] suggested that the recurrent distal 22q11.2 microdeletions do not represent a single clinical entity, and they proposed categorising these deletions into three types according to their genomic position. Based on a clinical and dysmorphologic evaluation of 194 individuals and a review of the literature, Monteiro et al [10] defined new guidelines for screening the 22q11.2 deletion and divided patients into four groups: Group I, clinical suspicion of 22q11.2DS with palatal anomalies; group II, clinical suspicion without palatal anomalies; group III, cardiac malformations associated with 22q11.2DS; and group IV, juvenile‐onset schizophrenia
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