Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation
J Med Genet
.
2000 Aug;37(8):612-5.
doi: 10.1136/jmg.37.8.612.
Authors
N Villa
,
E Sala
,
D Colombo
,
M Dell'Orto
,
L Dalprà
PMID:
10991690
PMCID:
PMC1734664
DOI:
10.1136/jmg.37.8.612
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 15*
Epilepsy / genetics
Female
Growth Disorders / genetics*
Humans
Intellectual Disability / genetics*
Karyotyping
Monosomy*
Translocation, Genetic*
Trisomy*