geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21


, : Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. European Journal of Medical Genetics 48(2): 167-174

We describe a patient in whom full monosomy 21 was initially assumed from routine GTG-banded karyotyping. Re-examination with chromosome painting demonstrated an unbalanced translocation between the long arms of chromosomes 18 and 21. Fluorescence in situ hybridisation (FISH) and microsatellite marker analysis revealed partial monosomy of chromosome 21 (pter-q21) and 18(q22-qter). The patient, 18 years old at the second examination, revealed multiple dysmorphic features, genital hypoplasia, dilated cerebral ventricles, muscular hypotonia and severe mental retardation. In not one out of all patients investigated postnatally in whom an initial examination had revealed monosomy 21, this could be confirmed by FISH; in all of them, re-examination detected an unbalanced rearrangement leading to only partial monosomy 21 plus partial monosomy of another chromosome to which the distal 21q segment was attached. Thus, it is still highly likely that full monosomy 21 is incompatible with intra-uterine survival. (c) 2005 Elsevier SAS. All rights reserved.

US$19.90

PMID: 16053908

DOI: 10.1016/j.ejmg.2005.01.026


Other references

McMahon, D.P.; Hayward, A.; Kathirithamby, J., 2011: The first molecular phylogeny of Strepsiptera (Insecta) reveals an early burst of molecular evolution correlated with the transition to endoparasitism. A comprehensive model of evolution requires an understanding of the relationship between selection at the molecular and phenotypic level. We investigate this in Strepsiptera, an order of endoparasitic insects whose evolutionary biology is poorly s...

Pirani, C.L.; Bly, C.G.; Sctherland, K., 1950: Scorbutic arthropathy in the guinea pig. Histological studies were made on a total of 82 guineapigs, most of which weighed between 175 and 250 g. but some weighed from 450 to 550 g. They received 3 different scorbutogenic diets which all produced the same result. Some received no supplem...

Halle, W.; Göres, E., 1987: Prediction of LD50 values by cell culture. Alternative approaches to toxicity tests with animals-more precisely defined as complementary methods-serve for reducing the number of animal experiments. The determination of cytotoxicity with cell cultures could be an important complementary met...

Martin, S., 1977: 1967-1972 - the large stages of nursing education reorganization. Soins; la Revue de Reference Infirmiere 22(13-14): 91-94

Connell, M.T.; Sjaarda, L.A.; Radin, R.G.; Kuhr, D.; Mumford, S.L.; Plowden, T.C.; Silver, R.M.; Schisterman, E.F., 2017: The Effects of Aspirin in Gestation and Reproduction (EAGeR) Trial: A Story of Discovery. Seminars in Reproductive Medicine 35(4): 344-352

Ferradini, M., 1972: Rationalization of pork production on state-aided farms in the Cotes du Nord, 1965-1972. The effect of state subsidies on the establishment of pig farms in the Cotes du Nord is examined at several levels: (1) the unit (buildings, production process from breeding to fattening); (2) farm management; (3) whether present and future supply...

Huetz, F.; Carlsson, L.; Holmberg, D., 1993: Distinct patterns of V-H7183 gene utilization and D-region structure during B cell differentiation. Journal of Cellular Biochemistry Supplement 0(17 PART B): 218

Shi-Chaoyi, 2007: On the impact factors of the evolution of the Daluze and Ningjinpo Lakes during 15th to 20th century. The Daluze and Ningjinpo Lakes, once the most well-known largest lakes in the plain in the southern part of the Haihe River valley, underwent dramatic evolution from vastness in the 15th century to dry-up in about the middle of 20th century. As fo...

Ata, C., 1985: Chemical control of weeds in conifer transplant beds and seedbeds under greenhouse conditions. In controlled experiments repeated in 1983 and 1984, seedbeds of Cedrus libani, Picea orientalis, Pinus brutia, P. nigra var. pallasiana [var. caramanica] and P. sylvestris were treated with diphenamid (pre- or post-emergence) or with simazine or...

Powley T.L.; Prechtl J.C., 1986: Gold thioglucose selectively damages dorsal vagal nuclei. To characterize the lesion produced in the medulla oblongata by gold thioglucose (GTG), the present experiment quantified the medullary damage in C57B1 mice that had become obese after treatment with 800 mg/kg of GTG at 30 days of age. At the rost...