PMID- 19793054
OWN - NLM
STAT- MEDLINE
DCOM- 20100126
LR  - 20091001
IS  - 1399-0004 (Electronic)
IS  - 0009-9163 (Linking)
VI  - 76
IP  - 3
DP  - 2009 Sep
TI  - Mild ring 17 syndrome shares common phenotypic features irrespective of the 
      chromosomal breakpoints location.
PG  - 256-62
LID - 10.1111/j.1399-0004.2009.01203.x [doi]
AB  - Ring 17 syndrome is a rare disorder with clinical features influenced by the 
      presence or deletion of the Miller-Dieker critical region (MDCR). Presence of the 
      MDCR is associated with a mild phenotype, including growth delay (GD), mental 
      retardation (MR), seizures, cafe au lait skin (CALS) spots and minor facial 
      dysmorphisms. Previous studies have been mainly focused on this locus providing 
      poor information about the role of other genes located on the p- and q-arms. 
      Here, we used bacterial artificial chromosome (BAC)/P1 artificial chromosome 
      (PAC) and fosmid clones as fluorescence in situ hybridization (FISH) probes to 
      perform a cyto-molecular analysis of a ring 17 case and found that the 
      breakpoints were close to the telomeric ends. METRNL is the sole gene located on 
      the q-arm terminal end, whereas two open reading frames and the RPH3AL gene are 
      located on the terminal p-arm. To detect possibly unrevealed small deletions 
      involving the transcription units, we used subcloned FISH probes obtained by 
      long-range polymerase chain reaction (PCR), which showed that the investigated 
      regions were preserved. Comparing our findings with other reports, it emerges 
      that different breakpoints, involving (or not) large genomic deletions, present 
      overlapping clinical aspects. In conclusion, our data suggest that a mechanism 
      based on gene expression control besides haploinsufficiency should be considered 
      to explain the common phenotypic features found in the mild ring 17 syndrome.
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, 00165 Roma, 
      Italy. cecilia.surace@opbg.net
FAU - Piazzolla, S
AU  - Piazzolla S
FAU - Sirleto, P
AU  - Sirleto P
FAU - Digilio, M C
AU  - Digilio MC
FAU - Roberti, M C
AU  - Roberti MC
FAU - Lombardo, A
AU  - Lombardo A
FAU - D'Elia, G
AU  - D'Elia G
FAU - Tomaiuolo, A C
AU  - Tomaiuolo AC
FAU - Petrocchi, S
AU  - Petrocchi S
FAU - Capolino, R
AU  - Capolino R
FAU - El Hachem, M
AU  - El Hachem M
FAU - Claps Sepulveda, D
AU  - Claps Sepulveda D
FAU - Sgura, A
AU  - Sgura A
FAU - Angioni, A
AU  - Angioni A
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Abnormalities, Multiple/*genetics/*pathology
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Breakage
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Facies
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Phenotype
MH  - Physical Chromosome Mapping
MH  - *Ring Chromosomes
MH  - Syndrome
EDAT- 2009/10/02 06:00
MHDA- 2010/01/27 06:00
CRDT- 2009/10/02 06:00
PHST- 2009/10/02 06:00 [entrez]
PHST- 2009/10/02 06:00 [pubmed]
PHST- 2010/01/27 06:00 [medline]
AID - CGE1203 [pii]
AID - 10.1111/j.1399-0004.2009.01203.x [doi]
PST - ppublish
SO  - Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x.