Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 1518027.
- Also identified by PMC identifier 1016069.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We report a case of monosomy for the distal region of the short arm of chromosome 10 (p13----ter) associated with trisomy for the terminal region of the long arm of chromosome 5 (q35.2----ter) that had originated from adjacent 1 segregation of a maternal reciprocal balanced translocation (5;10)(q35.2;p13). We review the clinical findings of previously reported cases of both partial monosomy for 10p and of partial trisomy for 5q, but to our knowledge there are no previous reports of the effects of these two chromosome anomalies together. Clinically our patient showed features typical of partial monosomy for 10p (including hypothyroidism) rather than partial trisomy 5q.
Medical subject headings
- Chromosomes, Human, Pair 10
- Chromosomes, Human, Pair 5
- Hypoparathyroidism
- Monosomy