Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
- 29 January 1999
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 82 (3) , 249-253
- https://doi.org/10.1002/(sici)1096-8628(19990129)82:3<249::aid-ajmg10>3.0.co;2-8
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- Prenatal diagnosis in CDG1 families: beware of heterogeneityEuropean Journal of Human Genetics, 1998
- Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated SyndromeAmerican Journal of Human Genetics, 1997
- Molecular-cytogenetic detection of a deletion of 1p36.3.Journal of Medical Genetics, 1997
- Monosomy 1p36.31–33→pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysisAmerican Journal of Medical Genetics, 1996
- Partial monosomy of chromosome 1p36.3: Characterization of the critical region and delineation of a syndromeAmerican Journal of Medical Genetics, 1995
- The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationNature Genetics, 1995
- The level of 6‐phosphogluconate dehydrogenase (6‐PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub‐band p36.3 on chromosome 1Clinical Genetics, 1984
- Monosomy 1pterHuman Genetics, 1981
- AN INTERSTITIAL TRANSLOCATION: CHROMOSOME NO. 1p TO 4qThe Lancet, 1972