منابع مشابه
Partial trisomy 7p associated with familial 7p;22q translocation.
A newly described partial trisomy of the short arm of chromosome number 7 is reported in a familial translocation between 7 and 22. The unbalanced translocation was found in one family member, the propositus, and the balanced form in 5 other members. The possibility of this translocation being a rare telomeric attachment previously undescribed in humans is discussed. Prominent clinical features...
متن کاملIntrachromosomal triplication of distal 7p.
A female infant who died at 2 years of age with growth and psychomotor retardation, wide anterior fontanelle, downward slanting palpebral fissures, large, simple ears, joint dislocation/contractures, recurrent infections, and severe pulmonary hypertension was found to have a de novo 7p+ chromosome. The G banding pattern was suggestive of a triplication of 7p21.3 and 7p22; results of fluorescenc...
متن کامل7p and 5qter
Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known craniosynostosis loci. (J7 Med Genet 1994;31:219-221) Mothercare Unit of Genetics...
متن کاملThe Concept of Enlightenment
lishing their sovereignty. yet the fully enlightened earth radiate~ b~ disaster triumphant. The program of the Enlightenment was 4-IJ the disenchantment of the world; the dissolution of myths and f#lJ)·r the substitution of knowledge for fancy. Bacon, the "father of experimental philosophy,"l had defined its motives. He looked down on the masters of tradition, the "great reputed authors" who fi...
متن کاملTwo children with partial trisomy for 7p.
A second family in which a balanced translocation between 7p and 22q is segregating is described. The clinical features of 2 children with a resulting partial trisomy for 7p are described and compared with the previously described case.
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ژورنال
عنوان ژورنال: Vestnik Kostroma State University. Series: Pedagogy. Psychology. Sociokinetics
سال: 2020
ISSN: 2073-1426
DOI: 10.34216/2073-1426-2020-26-1-5-16