Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)

Molecular cytogenetic characterization o

Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

✍ Tan-Sindhunata, Gita; Castedo, S�rgio; Leegte, Beike; Mulder, Irma; vd Veen, Ann 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was performed, which indicated that the ring chromosom