title: Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping.
abstract: The presence of derivative chromosome in a child with phenotypic features necessitates the need of parental karyotyping to ascertain the exact amount of loss or gain of the genetic material. The aim of this study was to emphasize the importance of parental karyotyping. Cytogenetic evaluation of the proband and his father were carried out at Laboratory. Cytogenetic analysis was performed on phytohemagglutinin stimulated cultures. The derivative chromosome 11 in proband was ascertained to have additional material from chromosome 6p arising from complex chromosomal rearrangement in the father. Karyotyping is the basic, cost-effective preliminary investigation in a child with mental subnormality or congenital anomalies.
authors.affiliation: Department of Molecular Medicine, Reliance Life Sciences, Navi Mumbai, India.
authors.forename: Prabhat
authors.initials: P
authors.lastname: Ranjan
authors.forename: Kundanbala
authors.initials: K
authors.lastname: Desai
authors.forename: Shailaja
authors.initials: S
authors.lastname: Gada Saxena
keywords: Balanced translocations; complex chromosomal rearrangement; derivative chromosome; genetic counseling; intellectual disability; karyotyping
references.citation: Hum Genet. 1979 Apr 17;48(1):13-6
references.pmid: 110670
references.citation: Am J Med Genet. 2002 Feb 15;108(1):36-40
references.pmid: 11857547
references.citation: Genome Res. 2011 Oct;21(10):1720-7
references.pmid: 21890680
references.citation: Exp Cell Res. 1960 Sep;20:613-6
references.pmid: 13772379
references.citation: Hum Genet. 1986 Nov;74(3):326
references.pmid: 3781562
references.citation: Oxf Rev Reprod Biol. 1992;14:47-72
references.pmid: 1437215