Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.
Bartsch, O
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. [electronic resource] - Cytogenetic and genome research 2007 - 158-64 p. digital
Publication Type: Case Reports; Journal Article
1424-859X
10.1159/000109634 doi
Adult
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17--genetics
Chromosomes, Human, Pair 7--genetics
Cytogenetics
Female
Gene Duplication
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Neurofibromatoses--genetics
Oligonucleotide Array Sequence Analysis
Telomere--classification
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. [electronic resource] - Cytogenetic and genome research 2007 - 158-64 p. digital
Publication Type: Case Reports; Journal Article
1424-859X
10.1159/000109634 doi
Adult
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 17--genetics
Chromosomes, Human, Pair 7--genetics
Cytogenetics
Female
Gene Duplication
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Neurofibromatoses--genetics
Oligonucleotide Array Sequence Analysis
Telomere--classification