Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin

Am J Med Genet A. 2012 Feb;158A(2):469-72. doi: 10.1002/ajmg.a.34410. Epub 2011 Dec 15.

Authors

T Gardeitchik, N de Leeuw, L Nijtmans, P Jira, T Kozicz, M Czako, I van de Burgt, E Morava

PMID: 22173889
DOI: 10.1002/ajmg.a.34410

No abstract available

Publication types

Letter

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / pathology
Beckwith-Wiedemann Syndrome / genetics
Beckwith-Wiedemann Syndrome / pathology
Child, Preschool
Chromosome Duplication*
Chromosomes, Human, Pair 11*
Cleft Lip / diagnosis
Cleft Palate / diagnosis
Costello Syndrome / genetics
Costello Syndrome / pathology
Cutis Laxa / diagnosis
Cutis Laxa / genetics*
Cutis Laxa / pathology*
Elastin / deficiency*
Elastin / ultrastructure
Female
Humans
Hydrocephalus / diagnosis
Karyotype
Proto-Oncogene Proteins p21(ras) / genetics

Substances

Elastin
HRAS protein, human
Proto-Oncogene Proteins p21(ras)