Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1.
A female with a de novo tandem duplication of 9q22.2-q31.1 is presented. Molecular delineation of the breakpoints was made by microarray CGH and fluorescent in situ hybridisation. Involvement of 9q22.2-q31.1 seems to be sufficient to produce the characteristic phenotype of partial trisomy 9q syndrome. A discussion on the recognizable clinical features of the condition is presented.
Utine
G E
GE
Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey.
Melotte
C
C
Vermeesch
J R
JR
Fryns
J P
JP
D000293:Adolescent; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D020080:Tandem Repeat Sequences / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*