Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8
β Scribed by Barber, John C. K. ;James, Rowena S. ;Patch, Christine ;Temple, I. Karen
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 377 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0148-7299
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A de novo chromosome aberration in a woman with severe mental retardation and minor anomalies has been characterized cytogenetically. The patient's karyotype was described as 46, XX, inv dup (8)(p12 + p23.1). Previous Southern blot dosage studies with the marker locus D8S7 demonstrated that the pati
We report the prenatal diagnosis at 30 weeks of gestation of a del(8)(p21.3-->pter) in a growth-retarded fetus with an unbalanced atrioventricular septal defect (AVSD) and a hypoplastic right ventricle. This observation further confirms the association of AVSD with terminal deletions of chromosome 8