PMID- 12503108
OWN - NLM
STAT- MEDLINE
DCOM- 20030430
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 116A
IP  - 3
DP  - 2003 Jan 30
TI  - Two new cases of analphoid marker chromosomes.
PG  - 284-9
AB  - Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA represent 
      a rare and interesting class of rearranged marker chromosomes. These SMCs are 
      predicted to have a neocentromere and have been referred to as neocentric marker 
      chromosomes (NMCs). We report the molecular cytogenetic characterization of two 
      new cases of neocentromere-containing chromosomes, one on 1q43-44 and one on 
      15q26. Both cases were examined using fluorescence in situ hybridization (FISH) 
      with various alpha-satellite DNA probes, and no alphoid DNA was detected. In case 
      1, the NMC originated from the distal long arm of chromosome 1 by chromosomal 
      microdissection and reverse painting. This marker lacked detectable chromosome 1q 
      subtelomeric sequences, and therefore appeared to be a small ring chromosome. 
      After genetic counseling with a high risk for a MCA/MR syndrome (trisomy 1q43 --> 
      q44), the family continued the pregnancy. At age 6 months, the infant 
      demonstrated no congenital or developmental anomalies. This is the first 
      published example of a NMC derived from chromosome 1q. The marker may be one of 
      the smallest, if not the smallest, human NMC reported to date. In case 2, fetal 
      ultrasonography indicated a complex heart defect (abnormal return of lower vena 
      cava, atrial septum malformation) and bilateral hydronephrosis. Molecular 
      cytogenetic analysis showed an inverted duplication of the distal long arm of 
      chromosome 15 (tetrasomy 15q24 --> qter). The pregnancy was terminated. Autopsy 
      demonstrated polycystic left kidney and dysplastic right kidney. Case 2 
      represents the ninth report of a neocentromere on distal chromosome 15q, 
      suggesting that this region may possibly especially support the formation of 
      neocentromeres.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Spiegel, Miriam
AU  - Spiegel M
AD  - Institut fur Klinische Genetik, Technische Universitat, Dresden, Germany.
FAU - Hickmann, Gabriele
AU  - Hickmann G
FAU - Senger, Gabriele
AU  - Senger G
FAU - Kozlowski, Peter
AU  - Kozlowski P
FAU - Bartsch, Oliver
AU  - Bartsch O
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (DNA, Satellite)
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - DNA, Satellite/genetics
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
EDAT- 2002/12/28 04:00
MHDA- 2003/05/06 05:00
CRDT- 2002/12/28 04:00
PHST- 2002/12/28 04:00 [pubmed]
PHST- 2003/05/06 05:00 [medline]
PHST- 2002/12/28 04:00 [entrez]
AID - 10.1002/ajmg.a.10916 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Jan 30;116A(3):284-9. doi: 10.1002/ajmg.a.10916.