Renal malformations in deletion 22q11.2 patients

✍ Scribed by Annegret Kujat; Marc D. Schulz; Sibylle Strenge; Ursula G. Froster

• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 61 KB
• Volume: 140A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.31289

✦ Synopsis

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 31 patients with 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