Post mortem findings in a patient with 46,XX,fra(2)(q13)
- 1 February 1989
- journal article
- research article
- Published by Wiley in Journal of Intellectual Disability Research
- Vol. 33 (1) , 87-93
- https://doi.org/10.1111/j.1365-2788.1989.tb01454.x
Abstract
A severely mentally retarded girl who suffered from grand mal seizures, myoclonic jerking and ataxia died at 18 years of age. Chromosome studies, before and after death revealed a fragile site on chromosome 2q13, the expression of which was greater in peripheral blood than in fibroblasts on two occasions. Post mortem findings did not reveal any abnormality which could be attributed to this fragile site.This publication has 10 references indexed in Scilit:
- A fragile secondary constriction on chromosome 2 in five patients with different clinical featuresHereditas, 2009
- A FRAGILE SECONDARY CONSTRICTION ON CHROMOSOME 2 IN A SEVERELY MENTALLY RETARDED PATIENTJournal of Intellectual Disability Research, 2008
- A fragile site 10q25 in human sperm chromosomes.Journal of Medical Genetics, 1986
- Constitutive fragile sites 1p31, 3p14, 6q26, and 16q23 and their use as controls for false‐negative results with the fragile(X)American Journal of Medical Genetics, 1984
- The fragile X(q27) form of X-linked mental retardation: FUdR as an inducing agent for fra(X)(q27) expression in lymphocytes, fibroblasts, and amniocytesAmerican Journal of Medical Genetics, 1982
- Descriptive neuropathology of chromosomal disorders in manHuman Genetics, 1981
- Marker X chromosome induction in fibroblasts by FUdRAmerican Journal of Medical Genetics, 1981
- Structural aberration in chromosome No. 2Human Genetics, 1973
- Preferential breakage of sensitive regions of human chromosomesHuman Genetics, 1970
- Non-condensation of one segment of a chromosome No. 2 in a male with an otherwise normal karyotype (and severe hypospadias)Published by Springer Nature ,1970