Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH
Am J Med Genet A
.
2010 Jan;152A(1):234-6.
doi: 10.1002/ajmg.a.33167.
Authors
Anna Lisa Nucaro
1
,
Melania Falchi
,
Tiziana Pisano
,
Rossano Rossino
,
Francesca Boscarelli
,
Giusi Stoico
,
Angela Milia
,
Caterina Montaldo
,
Carlo Cianchetti
,
Dario Pruna
Affiliation
1
INN-CNR, Cittadella Universitaria, ss 554, bivio Sestu, 09042 Monserrato, Cagliari, Italy. a.nuc@tiscali.it
PMID:
20034090
DOI:
10.1002/ajmg.a.33167
No abstract available
MeSH terms
Chromosomes, Human, Pair 14*
Developmental Disabilities / genetics*
Epilepsy / genetics*
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Nucleic Acid Hybridization
Ring Chromosomes*