Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.
Pierquin, G
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. [electronic resource] - Human genetics Sep 1991 - 587-91 p. digital
Publication Type: Case Reports; Journal Article
0340-6717
10.1007/BF00209018 doi
Adult
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 6
Collagen--metabolism
Face--abnormalities
Female
Humans
Infant
Joint Dislocations--diagnosis
Karyotyping
Male
Pedigree
Phenotype
Skin--metabolism
Syndrome
Trisomy
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. [electronic resource] - Human genetics Sep 1991 - 587-91 p. digital
Publication Type: Case Reports; Journal Article
0340-6717
10.1007/BF00209018 doi
Adult
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 6
Collagen--metabolism
Face--abnormalities
Female
Humans
Infant
Joint Dislocations--diagnosis
Karyotyping
Male
Pedigree
Phenotype
Skin--metabolism
Syndrome
Trisomy