A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.

Autor: Reittinger AM; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia., Helm BM; Department of Medical & Molecular Genetics, Indiana University School of Medicine and Riley Hospital for Children at IU Health, Indianapolis, Indiana., Boles DJ; Quest Diagnostics, Nichols Institute, Chantilly, Virginia., Gadi IK; Laboratory Corporation of America, Research Triangle Park, North Carolina., Schrier Vergano SA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Sep; Vol. 173 (9), pp. 2528-2533. Date of Electronic Publication: 2017 Jun 27.
DOI: 10.1002/ajmg.a.38344
Abstrakt: Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports of prenatally diagnosed mosaic trisomy 5 resulting in phenotypically normal offspring, suggesting a low level of mosaicism, but there are also reports associated with multiple congenital anomalies, cardiovascular malformations, and intrauterine growth restriction. We report an infant male diagnosed with mosaic trisomy 5 (5/15 cells) via amniocentesis. The patient was subsequently found to have uniparental disomy 5 (UPD5) by postnatal chromosome microarray, but high-resolution chromosome analysis on peripheral blood did not identify trisomy 5. Dysmorphic features included a tall forehead with low anterior hairline, hypertelorism, low-set ears, and a prominent nose and midface. Other anomalies included bilateral bifid thumbs, hypospadias, a perineal fistula, unilateral multicystic kidney, and decreased subcutaneous fat with loose skin. He had complex congenital heart disease consisting of ventricular and atrial septal defects and polyvalvular defects. The patient died at age one after a prolonged admission. We add this case to the literature with the added benefit of data from a postnatal microarray, which was not available in other cases, to broaden the phenotype of mosaic trisomy 5 and UPD5.With the current available technology, we stress the importance of postnatal genetic testing to confirm prenatal cytogenetic findings in order to further define such phenotypes. This will provide the most accurate information and counseling to affected families.
(© 2017 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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