A case of D ring chromosome identified with trypsin banding as a 13 with loss of the bands p12 and q34 is reported. The clinical features characteristically associated with the loss of these specific segments were present.
Ring chromosome 13 in a polymalformed anencephalic
✍ Scribed by W. Schmid; J. P. Mühlethaler; J. Briner; H. Knechtli
- Book ID
- 104703914
- Publisher
- Springer
- Year
- 1975
- Tongue
- English
- Weight
- 276 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
In the 33rd week of pregnancy an amniocentesis was performed because of low estriol. X-ray indicated the presence of anencephaly and a premature delivery was induced. Necropsy, in addition to anencephaly, showed a wide variety of malformations. The fetal karyotype determined from cultured amniotic fluid cells revealed a ring chromosome 13.
📜 SIMILAR VOLUMES
A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q--syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated
We present a boy with the karyotype 46,XY,r3 and a phenotype with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and edema of the feet. The karyotypes and phenotypes of both parents are normal.