PMID- 10756424
OWN - NLM
STAT- MEDLINE
DCOM- 20000512
LR  - 20060706
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 11
IP  - 1
DP  - 2000
TI  - A partial trisomy 15q due to 15;17 translocation detected by conventional 
      cytogenetic and FISH techniques.
PG  - 25-32
AB  - We report a case having multiple abnormalities including the simultaneous 
      presence of the heart defect and central nerve system abnormalities, which has 
      been reported in a few cases, and with a partial trisomy 15q. Partial trisomy 15q 
      has been inherited from a balanced translocation carried by his phenotypically 
      normal father, detected by traditional banding and fluorescence in situ 
      hybridization (FISH). Application of FISH using whole chromosome specific library 
      probes, locus specific and repetitive probes allowed us to detect the 
      translocation between chromosomes 15q and 17q. Simultaneous application of probes 
      revealed the position of the translocation. Interestingly, in addition to the 
      chromosomes 15 pericentromeric signals, the use of chromosome 15 beta-satellite 
      III probe demonstrated an extra signal on chromosome 14 in both metaphase, and 
      lighted three signals interphase nuclei which was inherited from his father. This 
      patient is compared with other partial trisomy 15q patients reported in the 
      literature. The results are also discussed in relation to genetic counselling for 
      the possible relation of chromosome abnormality and clinical findings.
FAU - Cora, T
AU  - Cora T
AD  - Department of Medical Genetics, Selcuk University, Medical Faculty, 
      Konya-Turkiye.
FAU - Acar, H
AU  - Acar H
FAU - Oran, B
AU  - Oran B
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 15
MH  - *Chromosomes, Human, Pair 17
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Pedigree
MH  - *Translocation, Genetic
MH  - *Trisomy
EDAT- 2000/04/11 09:00
MHDA- 2000/05/20 09:00
CRDT- 2000/04/11 09:00
PHST- 2000/04/11 09:00 [pubmed]
PHST- 2000/05/20 09:00 [medline]
PHST- 2000/04/11 09:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2000;11(1):25-32.