منابع مشابه
Familial pericentric inversion (10) and its effect on two offspring.
A pericentric inversion (10)(p15q24) was observed in three generations of a family. One daughter of the inversion carrier was found to have the inv(10) and trisomy 18. The other offspring had a recombinant (10) chromosome.
متن کاملFamilial pericentric inversion (13) detected by antenatal diagnosis.
A recombinant rec (13), dup q chromosome was diagnosed in a 17-week fetus following amniocentesis. Subsequently, a familial pericentric inversion of chromosome 13 was seen to be segregating in the family and the same recombinant 13 was present in a mentally retarded aunt of the fetus. The clinical features of the carriers of the inversion product are discussed with reference to previous cases.
متن کاملFamilial pericentric inversion inv ( 8 ) ( p 23 ql )
We describe two families in whom a pericentric inversion, inv(8)(p23q11), is segregating. No examples of unbalanced karyotypes were encountered. The families originated from neighbouring parishes in western Finland. In one family a mild form of mental retardation segregated. However, this phenotype did not cosegregate with the inversion karyotype. There was no evidence of a higher than average ...
متن کاملRecombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurre...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1980
ISSN: 1468-6244
DOI: 10.1136/jmg.17.3.222