PMID- 16329114
OWN - NLM
STAT- MEDLINE
DCOM- 20060307
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 1
DP  - 2006 Jan 1
TI  - Isolated 6q terminal deletions: an emerging new syndrome.
PG  - 74-81
AB  - Deletions of the distal part of the 6q chromosome have not been associated with a 
      clearly distinctive and recognizable phenotype. In order to determine if a "6q 
      terminal deletion syndrome" could be delineated, we compared the phenotype of two 
      new cases with those patients reported in literature presenting with a similar 
      deletion. Cases with more complex karyotypes were excluded. The deletion in our 
      patients was accurately analyzed by loss of heterozygosity (LOH) and fluorescence 
      in situ hybridization (FISH) with a panel of probes located around the putative 
      breakpoint. Interestingly, the breakpoints were located in 6q26 in both our 
      patients, distally to clone RP11-150P20 and proximally to clone RP11-152P19, with 
      a deletion size of approximately 8 Mb. The breakpoints fall within the fragile 
      site FRA6E. From a careful evaluation of the selected patients, a common 
      phenotype emerged, including psychomotor retardation, hypotonia, seizures, short 
      neck, and typical facial anomalies, along with nonspecific anomalies. While these 
      features are shared by other chromosome syndromes and are not sufficient on their 
      own for a clinical diagnosis, when considered together, the pattern can allow the 
      identification of the "6q terminal deletion syndrome." Moreover, the potential 
      role of FRA6E in generating these deletions is suggested.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - Bertini, Veronica
AU  - Bertini V
AD  - Molecular Genetic Unit, A.O.U. Pisana, Ospedale S. Chiara, via Roma 57, 56100 
      Pisa, Italy. v.bertini@ao-pisa.toscana.it
FAU - De Vito, Giuseppe
AU  - De Vito G
FAU - Costa, Rosa
AU  - Costa R
FAU - Simi, Paolo
AU  - Simi P
FAU - Valetto, Angelo
AU  - Valetto A
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosome Breakage/genetics
MH  - *Chromosome Deletion
MH  - Chromosome Disorders/genetics/pathology
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Loss of Heterozygosity
MH  - Male
MH  - Phenotype
MH  - Syndrome
EDAT- 2005/12/06 09:00
MHDA- 2006/03/08 09:00
CRDT- 2005/12/06 09:00
PHST- 2005/12/06 09:00 [pubmed]
PHST- 2006/03/08 09:00 [medline]
PHST- 2005/12/06 09:00 [entrez]
AID - 10.1002/ajmg.a.31020 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Jan 1;140(1):74-81. doi: 10.1002/ajmg.a.31020.