A case of 22;22 Robertsonian translocation, identified in the husband of a woman who had five early abortions, is reported.
Recurrent abortion associated with a balanced 22;22 translocation, or isochromosome 22q in a monozygous twin
β Scribed by B. V. Lewis; M. A. C. Ridler
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 238 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
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.
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An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a bal
## Communicated by Jurgen Horst Molecular characterization of chromosomal rearrangements is a powerful resource in identification of genes associated with monogenic disorders. We describe the molecular characterization of a balanced familial chromosomal translocation, t(16;22)(p13.3;q11.2), segreg