Isochromosome 18q with karyotype 46, XX, i(18q). Cytogenetics and pathology
- 1 December 1984
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 26 (6) , 549-554
- https://doi.org/10.1111/j.1399-0004.1984.tb01102.x
Abstract
Cytogenetic and morphological findings of a 20‐gestational‐week‐old female fetus with karyotype 46, XX, i(18q) are reported. The fetus displayed clinical features resembling Edward's syndrome. No characteristic symptoms of monosomy 18p could be observed.Keywords
This publication has 15 references indexed in Scilit:
- Descriptive neuropathology of chromosomal disorders in manHuman Genetics, 1981
- Features of trisomy 18 and 18p-syndromes in an infant with 46, XY, i(18q)Clinical Genetics, 1979
- Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.Journal of Medical Genetics, 1978
- Partial trisomy 18q in a newborn with typical 18 trisomy phenotypeHuman Genetics, 1978
- Cebocephaly in an infant with trisomy 18.Journal of Medical Genetics, 1977
- A case report of a presumptive +i(18p) associated with serum IgA deficiencyClinical Genetics, 1977
- Trisomy 18 and cyclopiaTeratology, 1976
- Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography.Journal of Medical Genetics, 1972
- An extra small metacentric chromosome in a mentally retarded boy.Journal of Medical Genetics, 1968
- Arrhinencephaly associated with a deficiency involving chromosome 18.Journal of Medical Genetics, 1968