Familial interstitial deletion of the short arm of chromosome 4 (p15.33–p16.3) characterized by molecular cytogenetic analysis

Abstract

This 15-month boy was expressed at the cytogenetic laboratory because of psychomotor development delay. He was tall and had plagiocephaly, micrognathia, high nasal bridge, anteverted nostrils and pectus excavatum. A 46,XY,del(4)(p16.1p16.3) karyotype was found using high-resolution R-banding technique. FISH studies using the LSI Wolf-Hirschhorn dual color 4p16.3 and the TelVysion 4p probes showed no deletion. Using BACs, the distal breakpoint was located in 4p16.3, between RP11-165K4 and RP11-717M10 and the proximal breakpoint in 4p15.33, between RP11-74M11 and RP11-1J7; therefore, approximately 7.96 Mb of the short arm were deleted. The maternal karyotype showed the same deletion, but in a mosaic status. Two distinct phenotypes have been recognized on the basis of the chromosomal bands involved in 4p deletion: the Wolf-Hirschhorn syndrome (WHS) and a proximal 4p deletion syndrome (4p15.2-p15.32). Our observation confirms that the basic WHS phenotype maps distally to this region.

Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18

“…B6: Ideograms of chromosomes 2, 3, 18, the recombinant of chromosome 2 and the derivative chromosome 18. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com] These results were confirmed by FISH techniques using whole chromosome painting probes of chromosomes 2 (wcp2), 3 (wcp3), and 18 (wcp18) (QBIOgene, Illkirch, France), specific subtelomeric probes of the short arm of chromosome 2 and long arm of chromosome 18 (Abbott, Rungis, France) and bacterial artificial chromosome (BAC) clones [Basinko et al, 2008]. The fetus inherited from his father the derivative chromosome 18 and a recombinant chromosome 2.…”

Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports

“…WHS is most often caused by terminal deletions involving chromosome 4p16.3 and may extend as far as 4p14 [11]. Interstitial deletions are less frequently reported [6, 7, 12], but are of a particular interest since they facilitate genotype–phenotype correlations and thus may aid in the search for causative genes.…”

Complex and cryptic chromosomal rearrangements involving the MLL gene in acute leukemia: A study of 7 patients and review of the literature

“…BACs were identified through the Human Genome Browser Database of the Genome Bioinformatics Group at the University of California at Santa Cruz (http://genome.ucsc.edu/) and Ensembl Genome Data Resources of the Sanger Institute Genome Database (http://www.ensembl.org/). Probes were extracted using standard methods and then labeled by nick translation (Bio Nick Labeling system), as previously described [6].…”