PMID- 18758162
OWN - NLM
STAT- MEDLINE
DCOM- 20080917
LR  - 20080901
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 121
IP  - 3-4
DP  - 2008
TI  - Masked complex chromosome rearrangement in a child thought to have del(8qter) as 
      the sole cytogenetic abnormality.
PG  - 215-21
LID - 10.1159/000138888 [doi]
AB  - Cytogenetic analyses of constitutional diseases have disclosed several 
      chromosomal rearrangements. At the molecular level, these rearrangements often 
      result in the breakage of genes or alteration of genome architecture. 
      Fluorescence in situ hybridization (FISH) and molecular investigations of a 
      patient showing hypotonia and dysmorphic traits revealed a masked complex 
      chromosome abnormality previously detected by G-banding as a simple 8qter 
      deletion. To characterize the genetic rearrangements panels of bacterial 
      artificial chromosomes (BACs) covering 8q24.22-->qter were constructed, and short 
      tandem repeats (STRs) were used to refine the localization of the breakpoints and 
      to assess the parental origin of the defect. Chromosome 8 displayed the 
      breakpoint at 8q24.22 and an unexpected distal breakpoint at 8q24.23 resulting in 
      unbalanced translocation of a small 8q genomic region on the chromosome 16qter. 
      The study of the 16qter region revealed that the 16q subtelomere was retained and 
      the translocated material of distal 8q was juxtaposed. Moreover, molecular 
      analyses showed that part of the translocated 8qter segment on der(16) was 
      partially duplicated, inverted and that the rearrangement arose in the paternal 
      meiosis. These findings emphasize the complexity of some only apparently simple 
      chromosomal rearrangements and suggest a subtelomeric FISH approach to enhance 
      diagnostic care when a cytogenetic terminal deletion is found.
CI  - Copyright 2008 S. Karger AG, Basel.
FAU - Surace, C
AU  - Surace C
AD  - Dipartimento dei Laboratori, U.O. Anatomia Patologica, Struttura Semplice di 
      Citogenetica e Genetica Molecolare, Ospedale Pediatrico Bambino Gesu, Roma, 
      Italy. cecilia.surace@opbg.net
FAU - Digilio, M C
AU  - Digilio MC
FAU - Lombardo, A
AU  - Lombardo A
FAU - Sirleto, P
AU  - Sirleto P
FAU - Tomaiuolo, A C
AU  - Tomaiuolo AC
FAU - Roberti, M C
AU  - Roberti MC
FAU - Capolino, R
AU  - Capolino R
FAU - Angioni, A
AU  - Angioni A
LA  - eng
PT  - Journal Article
DEP - 20080828
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
RN  - 0 (DNA Primers)
SB  - IM
MH  - Base Sequence
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 8
MH  - DNA Primers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
EDAT- 2008/09/02 09:00
MHDA- 2008/09/18 09:00
CRDT- 2008/09/02 09:00
PHST- 2008/05/08 00:00 [accepted]
PHST- 2008/09/02 09:00 [pubmed]
PHST- 2008/09/18 09:00 [medline]
PHST- 2008/09/02 09:00 [entrez]
AID - 000138888 [pii]
AID - 10.1159/000138888 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2008;121(3-4):215-21. doi: 10.1159/000138888. Epub 2008 Aug 
      28.