Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
Medical Genetics, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Lucia
L
Nacci
Cesare
C
Danesino
Laura
L
Sainati
Daniela
D
Longoni
Furio
F
Poli
Marco
M
Cipolli
Sandra
S
Perobelli
Elena
E
Nicolis
Zemira
Z
Cannioto
Jacopo
J
Morini
Roberto
R
Valli
Francesco
F
Pasquali
Antonella
A
Minelli
D001853:Bone Marrow / Q000473:pathology; D001855:Bone Marrow Diseases / Q000235:genetics* / Q000473:pathology; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D018628:Gene Dosage; D005838:Genotype; D006801:Humans; D008068:Lipomatosis / Q000235:genetics* / Q000473:pathology; D019656:Loss of Heterozygosity; D017422:Sequence Analysis, DNA; D000081003:Shwachman-Diamond Syndrome
SBDS; Shwachman-Diamond syndrome; chromosomal rearrangements; microsatellite analysis; myelodysplastic syndrome