Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

We report a case of Miller-Dieker syndrome (MDS) owing to an unbalanced rearrangement of a familial pericentric inversion of chromosome 17 (inv(17) (p13.3q25.1)). In addition to lissencephaly and the facial features of MDS, the affected child had other congenital malformations consistent with distal...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Kingston, H M, Ledbetter, D H, Tomlin, P I, Gaunt, K L
Médium: Artigo
Jazyk:Inglês
Vydáno: 1996
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051816/
https://ncbi.nlm.nih.gov/pubmed/8825053
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky