PMID- 11837600
OWN - NLM
STAT- MEDLINE
DCOM- 20020723
LR  - 20060706
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 12
IP  - 4
DP  - 2001
TI  - Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital 
      anomalies.
PG  - 319-26
AB  - Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital 
      anomalies: In this report, we present the clinical history and findings in a 
      6-month-old male with multiple congenital anomalies, developmental delay, and an 
      initial male karyotype with 4q+. The origin of the additional segment on 4q was 
      unequivocally established by fluorescence in situ hybridization (FISH). Whole 
      chromosome probe for chromosome 4 and chromosome 15-specific a-satellite probe 
      were used. The karyotype was demonstrated to be 46,XY,der(4), 
      t(4;15)(q35;?),inv(9)(p13q13). To the best of our knowledge the above cytogenetic 
      abnormalities with these clinical findings have not been described previously. 
      This case further demonstrates the advantage of FISH in the identification of 
      anomalous chromosome regions and breakpoints.
FAU - Celep, F
AU  - Celep F
AD  - Department of Medical Biology and Genetics, Karadeniz Technical University, 
      Faculty of Medicine, Turkey. gencelep@yahoo.com
FAU - Acar, H
AU  - Acar H
FAU - Aynaci, O
AU  - Aynaci O
FAU - Aynaci, F M
AU  - Aynaci FM
FAU - Karaguzel, A
AU  - Karaguzel A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Chromosomes, Human, Pair 15
MH  - *Chromosomes, Human, Pair 4
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - *Translocation, Genetic
EDAT- 2002/02/12 10:00
MHDA- 2002/07/24 10:01
CRDT- 2002/02/12 10:00
PHST- 2002/02/12 10:00 [pubmed]
PHST- 2002/07/24 10:01 [medline]
PHST- 2002/02/12 10:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2001;12(4):319-26.