title: Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
abstract: An 8-year-old boy presenting with hypotonia, moderate mental retardation, developmental delay, and psychomotor retardation is reported. Magnetic resonance imaging of the brain at age 3 years revealed a Dandy-Walker variant. Cytogenetic analysis of the peripheral blood revealed a derivative chromosome 12 with unknown additional material attached to the distal region of the long arm of chromosome 12. The parental karyotypes were normal. Spectral karyotyping (SKY) using the 24-color SKY probes and fluorescence in situ hybridization (FISH) using the specific 7p, 7q, 12p, and 12q telomeric probes confirmed a duplication of distal 7p and a deletion of terminal 12q. The karyotype of the proband was designated as 46,XY.ish der(12)t(7;12) (p21.2;q24. 33)(SKY+, 7pTEL+, 12qTEL-). The present case provides evidence for the association of partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter) with a cerebellar malformation and the usefulness of SKY and FISH in the identification of a de novo aberrant chromosome resulting from an unbalanced translocation.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com
authors.forename: C P
authors.initials: CP
authors.lastname: Chen
authors.forename: S P
authors.initials: SP
authors.lastname: Lin
authors.forename: C C
authors.initials: CC
authors.lastname: Lin
authors.forename: Y C
authors.initials: YC
authors.lastname: Li
authors.forename: L J
authors.initials: LJ
authors.lastname: Hsieh
authors.forename: J K
authors.initials: JK
authors.lastname: Huang
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: W
authors.initials: W
authors.lastname: Wang
mesh_terms: D002648:Child; D020223:Chromosome Painting; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003616:Dandy-Walker Syndrome / Q000235:genetics* / Q000473:pathology; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D014178:Translocation, Genetic; D014314:Trisomy