A 2-year-old girl with a prabable trisomy-22 translocation is described. The principal clinical symptoms described by the authors who have reported cases with proved trisomy 22 are presented. A probable 46,XX,-21,+t(21q;22q) karyotype was established in the patient. The proband's clinical picture is
A further case of a 22;22 Robertsonian translocation associated with recurrent abortions
β Scribed by M. Mameli; S. Cardia; A. Milia; M. Seabright
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 110 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
A case of 22;22 Robertsonian translocation, identified in the husband of a woman who had five early abortions, is reported.
π SIMILAR VOLUMES
A 45,XX,t(22;22)(p11;q11) or 45,XX,i(22q) chromosomal rearrangement was found in a woman with a history of recurrent abortion. A twin sister did not have the translocation even though marker studies indicate that the twins are probably monozygotic.
A 22/22 Robertsonian translocation has been identified in a woman with recurrent abortions by a Giemsa banding technique. Cytogenetic studies of the embryonic tissue derived from one of her spontaneous abortions have demonstrated that the aborted fetus had a 46,XX,-22,+t(22q22q) karyotype.
Pachytene analysis was undertaken in a male patient heterozygous for a 14q22q Robertsonian translocation. The relatively low rate of XY autosome association led us to examine the relationships existing between the chromosomes involved in the translocation, the rate of XY-autosome association and the