Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype.
We report on a 3-year-old child who presented a de novo rearrangement of chromosome 4, detected on GTG banding and characterized by array CGH and FISH, as a complex intrachromosomal rearrangement with three deletions: del(q32.1q32.2), del(q33q34.1), del(q35.2), one tandem duplication dup(q34.3q35.1) and short normal regions in between. The study of karyotype-phenotype correlations in this and other patients with deletions of 4q suggests 4q33q34.1 as a candidate region for 4q-syndrome and for craniofacial development.
Sensi
Alberto
A
Genetica Medica, Università di Ferrara, Ferrara, Italy. sna@unife.it
Prontera
Paolo
P
Buldrini
Barbara
B
Palma
Silvia
S
Aiello
Vincenzo
V
Gruppioni
Rita
R
Calzolari
Elisa
E
Volinia
Stefano
S
Martini
Alessandro
A
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D020732:Cytogenetic Analysis; D004247:DNA / Q000235:genetics; D020440:Gene Duplication; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D010641:Phenotype; D013577:Syndrome
D004247:DNA