Terminal deletion of (1)(q42) and its phenotypical manifestations
- 1 January 1978
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 41 (1) , 115-120
- https://doi.org/10.1007/bf00278878
Abstract
A 5-year-old male with multiple malformations (dwarfism, microcephalia with brachycephalic shape of skull, mongoloid lid axis, epicanthus, convergent strabismus, flat root of the nose, micrognathia, missing uvula, deformed low-set ears, hypoplastic genitals, and general hypotonia), severe mental retardation, and cerebral paroxysms caused by a partial monosomy (1)(q42→qter) is described. This case is compared with other cases with a partial monosomy or ring-1 chromosomes.Keywords
This publication has 7 references indexed in Scilit:
- Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1Clinical Genetics, 1976
- Ring-1 Chromosome, Microcephalic Dwarfism, and Acute Myeloid LeukemiaArchives of Pediatrics & Adolescent Medicine, 1973
- Trisomie 10 partielle par translocation familiale t(1;10) (q44;q22)Human Genetics, 1973
- The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of manChromosoma, 1972
- A large deletion of chromosome no. 1 (46,XY,1?--).Journal of Medical Genetics, 1968
- Ring 1 chromosome and dwarfism—a possible syndromeThe Journal of Pediatrics, 1967
- RING-1 CHROMOSOME AND MICROCEPHALIC DWARFISMThe Lancet, 1964