Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.
We report on a child with a small supernumerary marker chromosome (sSMC) causing partial trisomy 6p. The child showed a phenotype consisting of neonatal craniosynostosis, microcephaly, and borderline developmental delay. By molecular techniques the sSMC has been shown to contain approximately 16 Mb of genomic DNA from 6p21.1 to 6cen, being de novo and of maternal origin.
Villa
Olaya
O
Genetics Unit, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.
Del Campo
Miguel
M
Salido
Marta
M
Gener
Blanca
B
Astier
Laura
L
Del Valle
Jesús
J
Gallastegui
Fátima
F
Pérez-Jurado
Luis A
LA
Solé
Francesc
F
D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6; D003398:Craniosynostoses / Q000235:genetics*; D004252:DNA Mutational Analysis; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010375:Pedigree; D014314:Trisomy / Q000235:genetics*
D005819:Genetic Markers