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Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35)


, : Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35). Journal of Medical Genetics 31(8): 652-653

A 22 year old woman with partial trisomy for the long arm of chromosome 2 is described. The karyotype is 46,XX, dir dup(2)(q33.1q35) de novo confirmed by FISH using a chromosome 2 specific paint. Parental chromosome studies were normal. To our knowledge this is the first report of trisomy for this specific segment of 2q and only the sixth case of de novo direct duplication of 2q, one of which was mosaic. Clinical features include epicanthus, clinodactyly, scoliosis, broad, flat nasal bridge, thin upper lip, long philtrum, and short neck.

US$29.90

PMID: 7815427


Other references

Wulster G.J., 1984: A simple nondestructive technique for the measurement of root system growth. Hortsciencesect. 2: 519

Kyriacou C.P.; Hall J.C., 1987: Genetic and molecular analysis of behavioral rhythms in drosophila. Journal of Neurogenetics 4(2-3): 147-148

Healy, W.B., 1974: Cycling of soil through animals in farming ecosystems. [1:959.12]As soil is cycled through grazing animals it is a source of elements, over and above amounts contributed by herbage. Factors influencing ingestion, amounts of soil ingested, and effects on animal nutrition are discussed, particularly in...

Donovick, P.J., 1974: A meta chromatic stain for neural tissue. Thionin was reliably used as a polychrome stain for sections of neural tissue obtained from a freezing microtome. Nissl substance of dendrites and cell bodies stained the typical blue of thionin. Fiber tract bundles stained red. There was little i...

Sundqvist, V., 1997: Health- and nursing care meeting--"microscopes are not outdated". Vardfacket 21(5): 12-12

Szabó, A.; Jancsik, V.; Mornet, D.; Kálmán, Mály., 2004: Immunofluorescence mapping of dystrophin in the rat brain: astrocytes contain the splice variant Dp71f, but this is confined to subpopulations. Dystrophins are membrane-associated actin-binding proteins, recognized at first in muscular dystrophies. In the brain the full-length Dp427 has been detected, as well as Dp140 and Dp71 of the shorter variants. Dp71 seems to be their major represen...

Tian, Z.B., 1980: Examination of parietal cell antibodies in atrophic gastritis in Lanchow area. Zhonghua Nei Ke Za Zhi 19(3): 175-178

Pechlaner, C.; Buratti, T.; Biedermann, H.; Joannidis, M.; Wiedermann, C.J., 1999: Thrombolytic therapy in adult meningococcal purpura fulminans with acute renal failure and severe perfusion deficits to the extremities. Objective. To investigate whether systemic administration of recombinant tissue plasminogen activator would improve organ perfusion in an adult patient with fulminant meningococcal disease. Design. Descriptive case report. Patient. A 45-year-old f...

Kaloglu, G.; Tuncer, I.; Baysal, B., 1998: Investigation of penicillin tolerance and erythromycin resistance in group A-beta hemolytic streptococci isolated from throat cultures. In this study, the penicillin tolerance and erythromycin resistance of 100 strains of group A beta hemolytic streptococci, isolated from throat cultures of patients who admitted to outpatient clinics of Selcuk University Medical School, were inves...

Arora R.K.; Gode K.D., 1977: Spectrophotometric and conductometric study of complexation of tetracycline with analgin. Indian Journal of Pharmacy 39(6): 160