Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother.
Misceo
Doriana
D
Faculty of Medicine, Institute of Medical Genetics, University of Oslo, Oslo, Norway.
Orstavik
Karen Helene
KH
Lybaek
Helle
H
Sandvig
Inger
I
Ormerod
Eli
E
Houge
Gunnar
G
Frengen
Eirik
E
D000328:Adult; D020029:Base Pairing / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005190:Family; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D040582:Inheritance Patterns / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009035:Mothers; D011247:Pregnancy