PMID- 12400074
OWN - NLM
STAT- MEDLINE
DCOM- 20030326
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 113
IP  - 1
DP  - 2002 Nov 15
TI  - Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.
PG  - 101-4
AB  - We report on the cytogenetic, fluorescence in situ hybridization (FISH), and 
      molecular results obtained for a patient with a mild and nonspecific pattern of 
      minor anomalies and developmental delay. In the proband's karyotype one 
      chromosome 18 was replaced by a ring chromosome 18 in all metaphases, with 
      deletion of the terminal regions. Furthermore, 56% of the metaphases contained a 
      supernumerary small ring chromosome. Microdissection followed by FISH analysis 
      demonstrated that the small ring chromosome consisted of material from the 
      pericentromeric region of chromosome 18. The karyotype was defined as 
      46,XX,r(18)(p11.3q23)[88]/47,XX,r(18)(p11.3q23)+r(18)(p11.22q12.2)[112]. Thus, 
      the patient has a deletion at 18pter and at 18qter, and a mosaic partial trisomy 
      of the pericentromeric region of chromosome 18. We undertook molecular analysis 
      using DNA samples of the patient and her parents in order to clarify the origin 
      and possible mode of formation of the chromosome abnormalities. Our results show 
      a paternal origin of the structurally normal chromosome 18 and a maternal origin 
      for both ring chromosomes 18. Interestingly, the smaller ring chromosome did not 
      arise postzygotically from the larger ring, since the two ring chromosomes 
      contain genetic material derived from the two different maternal chromosomes 18. 
      The abnormalities appear to have arisen during a meiotic division, and it could 
      be speculated that both ring chromosomes 18 arose simultaneously due to complex 
      pairing and recombination events. After fertilization, the small ring chromosome 
      was lost in a subset of cells, thus leading to mosaicism.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Baumer, A
AU  - Baumer A
AD  - Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. 
      baumer@medgen.unizh.ch
FAU - Giovannucci Uzielli, M L
AU  - Giovannucci Uzielli ML
FAU - Guarducci, S
AU  - Guarducci S
FAU - Lapi, E
AU  - Lapi E
FAU - Rothlisberger, B
AU  - Rothlisberger B
FAU - Schinzel, A
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
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Child
MH  - *Chromosomes, Human, Pair 18
MH  - Developmental Disabilities/*genetics/pathology
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - Karyotyping
MH  - Meiosis
MH  - Metaphase
MH  - Microsatellite Repeats
MH  - *Ring Chromosomes
EDAT- 2002/10/26 04:00
MHDA- 2003/03/27 05:00
CRDT- 2002/10/26 04:00
PHST- 2002/10/26 04:00 [pubmed]
PHST- 2003/03/27 05:00 [medline]
PHST- 2002/10/26 04:00 [entrez]
AID - 10.1002/ajmg.10700 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Nov 15;113(1):101-4. doi: 10.1002/ajmg.10700.