Publication: Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
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Riegel, M., Castellan, C., Balmer, D., Brecevic, L., & Schinzel, A. (1999). Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. American Journal of Medical Genetics, 82, 249–253. https://doi.org/10.1002/(SICI)1096-8628(19990129)82:3<249::AID-AJMG10>3.0.CO;2-8
Abstract
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We report on a 4 year-old girl with a 1p36.3-pter deletion. Clinical findings included minor anomalies of face and distal limbs, patent ductus arteriosus, the Ebstein heart anomaly, and brain atrophy with seizures. Conventional GTG-banded chromosome analysis revealed a normal (46,XX) result. Subsequent analysis by fluorescent in situ hybridization (FISH) using distal probes demonstrated a deletion of 1p36.6-pter. Molecular investigations with microsatellite markers showed hemizygosity at three loci at 1p36.3 with loss of the paternal
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- Castellan, Claudio
- Schinzel, Albert
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Citations
Riegel, M., Castellan, C., Balmer, D., Brecevic, L., & Schinzel, A. (1999). Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. American Journal of Medical Genetics, 82, 249–253. https://doi.org/10.1002/(SICI)1096-8628(19990129)82:3<249::AID-AJMG10>3.0.CO;2-8
