منابع مشابه
Deletion mapping of the long arm of chromosome 22 in human meningiomas.
Cytogenetic and molecular genetic analyses have shown that a tumor-suppressor gene for human meningioma is located on the long arm of chromosome 22. Recently, somatic mutations of the NF2 gene have been identified in sporadic meningiomas. However, tumorigenesis of certain cases of meningioma cannot be fully explained by inactivation of the NF2 gene alone. Thus, to obtain some indication as to t...
متن کاملInterstitial deletion of the distal long arm of chromosome 4.
We report the first case of an interstitial deletion of the distal long arm of chromosome 4 (q31.22----q34.2). The major clinical features are described and compared to those of other published reports of del 4q, mainly those sharing a common deleted segment with the present case (both interstitial and terminal). This comparison suggests that the characteristic phenotype attributed to terminal ...
متن کاملTerminal deletion of the long arm of chromosome 10.
The case of two female patients with de novo terminal deletion of the long arm of chromosome 10, one with del(10)(q26.2) and the other with del(10)(q26.3), is reported. Both presented with megabladder associated with urinary tract abnormalities. The case of four similar patients has been previously reported with bladder dilatation secondary to urinary obstruction. These new cases highlight the ...
متن کاملChromosome 20 long arm deletion in an elderly malformed man.
A 46,XY/46,XY,del(20)(q13-->q13.33) mosaicism was identified in a 68 year old man who had mild mental retardation and severe malformation of the limbs. The clinical findings of the patient are compared to those of the very few cases of 20q deletion published to date.
متن کاملNormal male development with Y chromosome long arm deletion (Yq-).
(1972). Identifications of reciprocal translocation chromosomes by quinacrine fluorescence.cence patterns of the human metaphase chromosomes-distinguishing characters and variability. Hereditas, Genetiskt Arkiv, 67, 89-102. in the 13-15 group as a cause of partial trisomy and spontaneous abortion in the same family. (1960). Multiple congenital anomaly caused by an extra auto-some. Lancet, 1, 79...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1988
ISSN: 1468-6244
DOI: 10.1136/jmg.25.11.780