Studies from M.L. Robert and co-researchers update current data on Alagille syndrome
2007 OCT 23 -- Scientists discuss in 'Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart' new findings in Alagille syndrome. "'We report a male patient born at 37-weeks gestation, weighing 1.885 kg (<0.4th centile). Shortly after birth, he was diagnosed with hypoplastic left heart syndrome for which he underwent a Norwood procedure," scientists in Exeter, the United Kingdom report. "Subsequently, he developed problems with failure to thrive and developmental delay. At the age of 4 years his delay in growth and development led to further investigations, which revealed a small de-novo interstitial deletion of chromosome 20p12.2. JAGGED1 haploinsufficiency was confirmed by fluorescence in situ hybridization. Array-comparative genomic hybridization analysis confirmed and quantified an approximate 5.4 Mb interstitial deletion involving the chromosomal region 20p12.2-p12.3. This precise interstitial deletion has not been previously reported. Further clinical evaluation revealed posterior embryotoxon and butterfly vertebrae. He has normal liver function tests, facial features consistent with Alagille syndrome, and mild learning difficulties," wrote M.L. Robert and colleagues, . The researchers concluded: "To our knowledge this is the first report of Alagille syndrome associated with hypoplastic left heart syndrome." Robert and colleagues published their study in Clinical Dysmorphology (Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart. Clinical Dysmorphology, 2007;16(4):241-6). For additional information, contact M.L. Robert, Peninsula Clinical Genetics Service, Exeter, UK. The publisher's contact information for the journal Clinical Dysmorphology is: Lippincott Williams & Wilkins, 530 Walnut St., Philadelphia, PA 19106-3621, USA. Keywords: United Kingdom, Exeter, Alagille Syndrome, Clinical Dysmorphology. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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