Supernumerary marker chromosome in a child with microcephaly and mental retardation.
A de novo supernumerary marker chromosome (SMC) was identified in a 13-month-old girl who presented with microcephaly and mild mental retardation. On further characterization by oligo-nucleotide array-comparative genomic hybridization [array-CGH], the SMC was confirmed to be 18p.
Sheth
Frenny
F
Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Road, Satellite, Ahmedabad, India.
Andrieux
Joris
J
Sheth
Jayesh
J
D002887:Chromosomes, Human, Pair 18; D055028:Comparative Genomic Hybridization; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics
D005819:Genetic Markers