title: Partial trisomy 9q due to maternal 9q 17q translocation.
abstract: Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is unique as even though partial trisomy 9q has been reported earlier with 9/17 translocations, our family is the first to have a translocation between q arms of chromosomes 9 and 17.
authors.affiliation: Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Elamakkara PO, Cochin 682 026, Kerala, India. sheelaknpn@yahoo.co.in
authors.forename: Sheela
authors.initials: S
authors.lastname: Nampoothiri
authors.forename: Lakshmy R
authors.initials: LR
authors.lastname: Lakshman
authors.forename: Alka
authors.initials: A
authors.lastname: Anilkumar
authors.forename: M V
authors.initials: MV
authors.lastname: Thampi
mesh_terms: D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*