Publication Type:

Journal Article

Source:

Indian Pediatrics, Volume 45, Number 7, p.595-598 (2008)

URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-47049094969&partnerID=40&md5=ad2e830f779fc14a95e3ee56c8c57368

Keywords:

article, blood sampling, case report, chromosome aberration, chromosome analysis, chromosome translocation, Chromosomes, clinical feature, computer assisted tomography, electroencephalogram, extrachromosomal inheritance, flexion contracture, Genetic, human, Humans, infant, karyotyping, male, metaphase chromosome, newborn, newborn assessment, Pair 17, Pair 9, partial trisomy 9q, Pedigree, phenotype, prenatal diagnosis, Translocation, trichiasis, Trisomy, X ray

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.

Notes:

cited By (since 1996)2

Cite this Research Publication

Sac Nampoothiri, Lakshman, L. Ra, Anilkumar, Aa, and Thampi, M. Vb, “Partial trisomy 9q due to maternal 9q/17q translocation”, Indian Pediatrics, vol. 45, pp. 595-598, 2008.