Ładuje się......
Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1
We report a 3-generation family in which 2 Xp copy number variations (CNVs) co-segregate. The proband presented with syndromic intellectual disability. The CNV had been revealed by conventional karyotyping, identifying a large Xp22 duplication causing an Xp functional disomy. Family studies found th...
Zapisane w:
| Wydane w: | Mol Syndromol |
|---|---|
| Główni autorzy: | , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
S. Karger AG
2017
|
| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5701268/ https://ncbi.nlm.nih.gov/pubmed/29230163 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000479455 |
| Etykiety: |
Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!
|