Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion

Theresa L. Stewart, Mira B. Irons, Janet M. Cowan, Diana W. Bianchi

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


A well-known association exists between the presence of a chromosome 22q11 microdeletion and conotruncal heart malformations. Recently, there has been an increased appreciation of the expanded clinical phenotype associated with this chromosome abnormality. We performed a medical record review to evaluate the incidence of renal anomalies in a group of 15 patients ascertained in a single medical center over a 33-month period. Of the 15 patients, 13 had a renal sonogram performed. Five of 13 patients studied (38.4%) had a renal anomaly. The specific abnormalities identified included: bilateral duplex kidneys (1 patient), unilateral renal agenesis (1 patient), unilateral multicystic dysplastic kidneys (2 patients, including 1 ascertained prenatally), and bilateral, extremely small (less than 2 SD below mean) kidneys (1 patient). The incidence of renal anomalies in our patient population (38.4%) was higher than expected, and agrees with a recent European collaborative study. The present report and the European study both demonstrate a higher percentage of renal abnormalities than the 10% previously reported in the literature. Because patients affected with chromosome 22q11 microdeletion often have multiple medical and surgical problems, we recommend obtaining a baseline renal ultrasound examination to identify renal anomalies before they become symptomatic.

Original languageEnglish (US)
Pages (from-to)20-22
Number of pages3
Issue number1
StatePublished - 1999
Externally publishedYes

ASJC Scopus subject areas

  • Embryology
  • Toxicology
  • Developmental Biology
  • Health, Toxicology and Mutagenesis


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