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Renal malformations in deletion 22q11.2 patients

DiGeorge anomaly (OMIM #188400) consists of hypoplasia of the thymus, T-Cell deficiency, hypoparathyroidism and structural heart defects [DiGeorge, 1965; Greenberg et al., 1984; Wilson et al., 1993]. Since establishment of fluorescence in situ hybridization (FISH), microdeletions in 22q11.2 were detectable in an increasing number of patients with DiGeorge anomaly, velocardiofacial syndrome (VCFS, syn. Shprintzen syndrome) and conotruncalanomaly-face syndrome [Scambler et al., 1991; Carey et al., 1992]. The 22q11.2 microdeletion syndrome occurs in 1/4,000 live births and constitutes the most frequent interstitial chromosomal aberration. A wide spectrum of clinical findings has been described in patients carrying the 22q11.2 deletion. The main symptoms are congenital heart defects, particularly conotruncal anomalies, immune deficiency and characteristic facial features. Congenital heart defects are present in over 70% of patients. Hearing loss, renal malformations, growth failure, and seizures are described less frequently. Also psychiatric disorders like schizophrenia are common in deletion 22q11.2 patients [Bassett et al., 2003]. We selected 31patientswith complete descriptions of their clinical phenotype. Patients with incomplete clinical data were excluded from this report. Of the 31 patients evaluated for microdeletion 22q11.2, 30 of them were referred to our clinic because of cardiovascular malformations and one because of velopharyngeal insufficiency and facial dysmorphisms. A complex heart defect associated with other malformations such as facial dysmorphisms, facial clefts and immune defects was reported in 27 patients at referral while in three patients an isolated heart defect was present. Routine cytogenetic analysis on Giemsa-banded chromosomes from cultured blood lymphocytes were performed on all 31 patients and were normal. FISH on metaphase chromosomes using DNA probes from the DiGeorge critical region, DGCR [TUPLE1, N25; Abbott/Vysis] for 22q11–13 deletion screening was performed. The clinical data of the patients were re-evaluated after cytogenetic and molecular cytogenetic investigations were completed to specify the phenotype. We found a microdeletion 22q11.2 in six out of the 31 selected patients (19%). Using the probes TUPLE1 and N25 (Abbott/Vysis) we found both loci to be deleted, spanning the complete DGCR. The affected patients showed typical facial features such as ear abnormalities and micrognathia. Two of these six patients were diagnosed with immune deficiencies and thymic hypoplasia. The clinical findings were summarized in Table I. In particular we noticed a high percentage of renal malformations in our group. In five out of six patients (80%) renal dysplasia, hydronephrosis and single kidney were recognized (seeTable I).Whileour sample size is small, this rateof renal anomalies in our group is higher than expected. Earlier studies demonstrated a percentage up to 40% for renal malformations in patients with a microdeletion 22q11 [Stewart et al., 1999; Wu et al., 2002]. Stewart et al. [1999] described an incidence of renal anomalies of 38.4% including bilateral duplex kidney, unilateral renal agenesis and dysplastic or small kidneys. The types of renal malformations noted in our study are similar to these of the European collaborative study [Ryan et al., 1997] and the study from Stewart et al. [1999]. However, Stewart et al. did not find a correlation between thymic and