Inherited Partial Trisomy 8q (22 → qter)
- 1 May 1978
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Pediatrics & Adolescent Medicine
- Vol. 132 (5) , 498-501
- https://doi.org/10.1001/archpedi.1978.02120300058012
Abstract
• We report clinical observations and cytogenetic studies of an inherited form of partial trisomy 8q. Although complete trisomy 8 has in recent years proven to be a clinically recognizable syndrome, partial trisomy 8q has been documented in only six individuals. Of these, five were familial and also partially trisomic for chromosome 22. There has been only one prior report of partial trisomy 8q without partial trisomy 22. Review of these cases provides support for the recent suggestion that the phenotype of trisomy 8 may be caused principally by trisomy of the distal segment of 8q. (Am J Dis Child 132:498-501, 1978)This publication has 4 references indexed in Scilit:
- Partial trisomy 8 (8q24) and the trisomy-8 syndromeHuman Genetics, 1974
- Trisomy-8 syndromePublished by Springer Nature ,1974
- C8 TRISOMY MOSAICISM SYNDROMEObstetrical & Gynecological Survey, 1973
- Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicismThe Journal of Pediatrics, 1970