A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a ba
Familial C/D translocation t(9;13)(9p23;13q21) in a male associated with recurrent abortion
โ Scribed by D. Pal Singh-Kahlon; A. Serra
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 895 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
A familial reciprocal translocation, established by R-banding as t(9;13) (9p23;13q21), is described in a phenotypically normal male carrier, whose father is also a balanced carrier and wife had four consecutive spontaneous abortions. The role of translocation in reproductive failure through production of chromosomally unbalanced gametes or by impairment of the spermatogenesis is briefly discussed.
๐ 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.