PMID- 16719278
OWN - NLM
STAT- MEDLINE
DCOM- 20061016
LR  - 20061115
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 17
IP  - 1
DP  - 2006
TI  - Spectral karyotyping and fluorescence in situ hybridization analysis of de novo 
      partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
PG  - 57-63
AB  - 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.
FAU - Chen, C P
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan, Republic of China. cpc_mmh@yahoo.com
FAU - Lin, S P
AU  - Lin SP
FAU - Lin, C C
AU  - Lin CC
FAU - Li, Y C
AU  - Li YC
FAU - Hsieh, L J
AU  - Hsieh LJ
FAU - Huang, J K
AU  - Huang JK
FAU - Lee, C C
AU  - Lee CC
FAU - Wang, W
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Child
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Dandy-Walker Syndrome/*genetics/pathology
MH  - Genetic Counseling
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Monosomy
MH  - Translocation, Genetic
MH  - *Trisomy
EDAT- 2006/05/25 09:00
MHDA- 2006/10/17 09:00
CRDT- 2006/05/25 09:00
PHST- 2006/05/25 09:00 [pubmed]
PHST- 2006/10/17 09:00 [medline]
PHST- 2006/05/25 09:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2006;17(1):57-63.