PMID- 15809996
OWN - NLM
STAT- MEDLINE
DCOM- 20050531
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 135
IP  - 1
DP  - 2005 May 15
TI  - An unusual reciprocal translocation detected by subtelomeric FISH: interstitial 
      and not terminal.
PG  - 86-90
AB  - An 11-month-old boy with a pattern of dysmorphic signs, an atrial septal defect, 
      right inguinal hernia, bilateral undescended testes, bilateral urinary reflux, 
      right renal dysplasia, and developmental delay had an abnormal chromosome 11 with 
      additional material of unknown origin attached to the long arm in his karyotype. 
      The paternal karyotype was normal 46,XY, while the mother's karyotype was 
      46,XX,t(2;11)(q35;q24.2). Thus, a reciprocal terminal exchange was assumed 
      resulting in duplication of distal 2q material and a small subterminal 11q 
      deletion. However, application of subtelomeric fluorescence in situ hybridization 
      (FISH) probes indicated that the translocation was not a terminal reciprocal 
      exchange, but was interstitial at least for one of the chromosomes, which would 
      be highly unusual since most interstitial translocations are non-reciprocal. 
      Based on the results of FISH and microsatellite marker examinations, the 
      designation of the breakpoints and thus of the deleted and duplicated segments 
      had to be revised. The findings have implications for karyotype-phenotype 
      correlation.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - Riegel, Mariluce
AU  - Riegel M
AD  - Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, CH-8603 
      Schwerzenbach, Switzerland. riegel@medgen.unizh.ch
FAU - Baumer, Alessandra
AU  - Baumer A
FAU - Suss, Jochen
AU  - Suss J
FAU - Schinzel, Albert
AU  - Schinzel A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/genetics/pathology
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Chromosomes, Human, Pair 2/genetics
MH  - Developmental Disabilities/pathology
MH  - Family Health
MH  - Heart Septal Defects, Atrial/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Karyotyping
MH  - Kidney/abnormalities
MH  - Male
MH  - Telomere/*genetics
MH  - Testis/abnormalities
MH  - *Translocation, Genetic
EDAT- 2005/04/06 09:00
MHDA- 2005/06/01 09:00
CRDT- 2005/04/06 09:00
PHST- 2005/04/06 09:00 [pubmed]
PHST- 2005/06/01 09:00 [medline]
PHST- 2005/04/06 09:00 [entrez]
AID - 10.1002/ajmg.a.30683 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 May 15;135(1):86-90. doi: 10.1002/ajmg.a.30683.