A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.
A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malfor...
Spremljeno u:
| Izdano u: | J Med Genet |
|---|---|
| Glavni autori: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Publishing Group
1993
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016504/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8411060/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.8.697 |
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