PMID- 11424138
OWN - NLM
STAT- MEDLINE
DCOM- 20010726
LR  - 20220331
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 101
IP  - 3
DP  - 2001 Jul 1
TI  - Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 
      18.
PG  - 226-39
AB  - We report the results of detailed clinical and molecular-cytogenetic studies in 
      seven patients with ring chromosome 18. Classical cytogenetics and fluorescence 
      in situ hybridization (FISH) analysis with the chromosome 18 painting probe 
      identified five non-mosaic and two complex mosaic 
      46,XX,dup(18)(p11.2)/47,XX,dup(18)(p11.2),+r(18) and 
      46,XX,dup(18)(p11.32)/47,XX,dup(18)(p11.32),+r(18) cases. FISH analysis was 
      performed for precise characterization of the chromosome 18 breakpoints using 
      chromosome 18-specific short-arm paint, centromeric, subtelomeric, and a panel of 
      fifteen Alu- and DOP-PCR YAC probes. The breakpoints were assessed with an 
      average resolution of approximately 2.2 Mb. In all r(18) chromosomes, the 18q 
      terminal deletions ranging from 18q21.2 to 18q22.3 ( approximately 35 and 9 Mb, 
      respectively) were found, whereas only in four cases could the loss of 18p 
      material be demonstrated. In two cases the dup(18) chromosomes were identified as 
      inv dup(18)(qter-->p11.32::q21.3-->qter) and inv 
      dup(18)(qter-->p11.32::p11.32-->p11.1: :q21.3-->qter)pat, with no evidence of an 
      18p deletion. A novel inter-intrachromatid mechanism of formation of duplications 
      and ring chromosomes is proposed. Although the effect of "ring instability 
      syndrome" cannot be excluded, the phenotypes of our patients with characteristic 
      features of 18q- and 18p- syndromes are compared and correlated with the analyzed 
      genotypes. It has been observed that a short neck with absence of cardiac 
      anomalies may be related to the deletion of the 18p material from the r(18) 
      chromosome.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Stankiewicz, P
AU  - Stankiewicz P
AD  - Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. 
      p.stankiewicz@imid.med.pl
FAU - Brozek, I
AU  - Brozek I
FAU - Helias-Rodzewicz, Z
AU  - Helias-Rodzewicz Z
FAU - Wierzba, J
AU  - Wierzba J
FAU - Pilch, J
AU  - Pilch J
FAU - Bocian, E
AU  - Bocian E
FAU - Balcerska, A
AU  - Balcerska A
FAU - Wozniak, A
AU  - Wozniak A
FAU - Kardas, I
AU  - Kardas I
FAU - Wirth, J
AU  - Wirth J
FAU - Mazurczak, T
AU  - Mazurczak T
FAU - Limon, J
AU  - Limon J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Growth Disorders
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability
MH  - Male
MH  - Psychomotor Disorders
MH  - *Ring Chromosomes
EDAT- 2001/06/26 10:00
MHDA- 2001/07/28 10:01
CRDT- 2001/06/26 10:00
PHST- 2001/06/26 10:00 [pubmed]
PHST- 2001/07/28 10:01 [medline]
PHST- 2001/06/26 10:00 [entrez]
AID - 10.1002/1096-8628(20010701)101:3<226::AID-AJMG1349>3.0.CO;2-# [pii]
AID - 10.1002/1096-8628(20010701)101:3<226::aid-ajmg1349>3.0.co;2-# [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Jul 1;101(3):226-39. doi: 
      10.1002/1096-8628(20010701)101:3<226::aid-ajmg1349>3.0.co;2-#.