Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)

American Journal of Medical Genetics. Part a
M L LoscalzoG H Thomas

Abstract

A de novo deletion of the long arm of chromosome 2 at 2q31-33 was observed in the fetal amniocyte G-banded karyotype performed because of possible multiple malformations identified by ultrasound at 23 weeks gestation. Two days after the uneventful term delivery of a 2.45 kg male, the neonate experienced cardiopulmonary decompensation and biochemical changes compatible with carbamoyl phosphate synthetase I (CPS I) deficiency (elevated ammonia with a peak of 948 micromol/L, deficiency of citrulline, and no increase in orotic acid). The child died on day 3 of life. Physical anomalies confirmed at autopsy included double superior vena cava, ectopic adrenal tissue, and metatarsus adductus. The autopsy also revealed histologic evidence consistent with CPS deficiency, most notably microvesicular steatosis of the liver and Alzheimer's Type II changes with hypertrophic astrocytes in the basal ganglia. A postnatal lymphocyte karyotype confirmed the chromosome 2q31-33 deletion. Enzyme analysis on postmortem liver tissue confirmed the diagnosis of CPS deficiency. CPS I is reported to be mapped to 2q35 by NCBI (http://www.ncbi.nlm.nih.gov/mapview/) and 2q34 by ENSEMBL (http://www.ensembl.org/). The UCSC Human Genome Browser July 2003 assemb...Continue Reading

References

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Oct 1, 1995·Journal of Medical Genetics·M B Coulter-MackieD E Cole
Aug 1, 1997·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·K Badizadegan, A R Perez-Atayde
Sep 5, 1997·American Journal of Medical Genetics·W CourtensE Vamos

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Citations

Jul 11, 2013·Case Reports in Genetics·Adrian Mc CormackDonald R Love
Jan 20, 2006·BMC Bioinformatics·Jason C TingJonathan Pevsner
Sep 22, 2010·Molecular Genetics and Metabolism·Jing WangLee-Jun C Wong
Aug 31, 2010·Molecular Genetics and Metabolism·Ana Isabel MartínezJavier Cervera
Aug 28, 2012·Metabolism: Clinical and Experimental·Maria M AdevaCristóbal Donapetry
Jul 12, 2017·Molecular Syndromology·Milena SimioniVera L Gil-da-Silva-Lopes

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