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Molecular cytogenetic diagnosis of Partial trisomy of the long arm of chromosome 9 in a child with mental and motor retardation due to maternal translocation


, : Molecular cytogenetic diagnosis of Partial trisomy of the long arm of chromosome 9 in a child with mental and motor retardation due to maternal translocation. Rossiiskii Vestnik Perinatologii i Pediatrii 44(5): 33-36

A case of partial trisomy of the long arm of chromosome 9 is described in a child with mental and motor retardation and developmental microanomalies. A cytogenetic study of his parents revealed that this abnormality in the proband was maternal. Cytogenetic and molecular cytogenetic studies identified partial trisomy of the region 9q31-9q34.2 in the child and complicated translocation with participation of 3 chromosomes in his mother. Whether there is a correlation of the clinical picture and the doubling of the aforesaid site of chromosome 9 is discussed. The paper shows that there is a need for such descriptions to define the minimum diagnostic signs in order to study whether there is a correlation between the presence of additional sites of chromosomes and the specific clinical picture that will be useful in singling out new chromosomal syndromes.

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Other references

Wellensiek S.J., 1970: The rate of floral deblocking in silene armeria d. Zeitschrift fuer Pflanzenphysiologie 61(5): 462-471

Greve, Wulf, 1995: Mutual predation causes bifurcations in pelagic ecosystems: The simulation model PLITCH (Planktonic Switch), experimental tests, and theory. Zooplankton production is greatly dependent on the governing stability regimes of the ecosystems determining the flow of biomass transfer. Mutual predation causes bifurcations or phase transitions between two or more stable equilibria in pelagic c...

Udar R.; Singh D.K., 1986: Folioceros appendiculatus new combination new record anthocerotaceae an addition to indian bryoflora. Anthoceros appendiculatus St. has been transferred to the genus Folioceros Bharad. and described here as F. appendiculatus (St.) Udar et Singh, comb. nov. This constitutes the first record of its occurrence in Indian bryoflora. The plants are rema...

Barr, A.M., 1972: A device for rapid ECG monitoring. Anaesthesia 27(1): 94-94

Joyce E.B.; Lulofs D., 1994: Mobility of base metals through regolith at Broken Hill, NSW, based on detailed regolith mapping and chemical analyses. Record - Australian Geological Survey Organisation Pages 33

Dharmalingam K.; Jayaraman J., 1973: Mitochondriogenesis in synchronous cultures of yeast part 1 oscillatory pattern of respiration. Archives of Biochemistry & Biophysics 157(1): 197-202

Kraft, W.K., 2017: Buprenorphine in the neonatal abstinence syndrome. Clinical Pharmacology and Therapeutics

Hogenhuis L.A.H.; Van Der Pol H.A.G.; Flendrig J.A.; Bos L.P., 1985: Esophageal motility in diabetic neuropathy investigated by scintigraphy a new method. Diabetes Research & Clinical Practice (SUPPL 1): S245

Ram, G.C.; Siddqui, F.A.; Misra, U.K., 1979: Hepatic lysosomal enzymes in young rats fed retinol. Oral administration of one dose of 6.0 and 12.0 mg retinol for one day significantly increased percentage free activities of protease (cathepsins), cathepsin B1 and acid ribonuclease, whereas feeding of one dose of 1.5 mg retinol for one day did n...

Ahn Jung Ho; Peacor D.R.; Essene Eric J., 1986: Cation-diffusion-induced characteristic beam damage in transmission electron microscope images of micas. Transmission and analytical electron microscopy have been used to characterize the numerous lenticular fissures which were observed in electron micrographs of paragonite. Observations with a very weak electron beam revealed that there were no fiss...