PMID- 10748409
OWN - NLM
STAT- MEDLINE
DCOM- 20000421
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 91
IP  - 2
DP  - 2000 Mar 13
TI  - Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with 
      neocentromere in a child without the classical Down syndrome phenotype.
PG  - 116-22
AB  - We report on a mentally retarded child with multiple minor anomalies and an 
      unusually rearranged chromosome 21. This der(21) chromosome has a deletion of 21p 
      and of proximal 21q, whereas the main portion of 21q is duplicated leading to a 
      mirror-symmetric appearance with the mirror axis at the breakpoint. The 
      centromere is only characterized by a secondary constriction (with a centromeric 
      index of a G chromosome) at an unexpected distal position, but fluorescence in 
      situ hybridization (FISH) with either chromosome specific or with all human 
      centromeres alpha satellite DNA shows no cross hybridization. Thus, the marker 
      chromosome represents a further example of an "analphoid marker with 
      neocentromere." Molecular analysis using polymorphic markers on chromosome 21 
      verified a very small monosomic segment of the proximal long arm of chromosome 
      21, and additionally trisomy of the remaining distal segment. Although trisomic 
      for almost the entire 21q arm, our patient shows no classical Down syndrome 
      phenotype, but only a few minor anomalies found in trisomy 21 and in monosomy of 
      proximal 21q, respectively.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Barbi, G
AU  - Barbi G
AD  - Abteilung Medizinische Genetik der Universitat, Ulm, Germany. 
      gotthold.barbi@medizin.uni-ulm.de
FAU - Kennerknecht, I
AU  - Kennerknecht I
FAU - Wohr, G
AU  - Wohr G
FAU - Avramopoulos, D
AU  - Avramopoulos D
FAU - Karadima, G
AU  - Karadima G
FAU - Petersen, M B
AU  - Petersen MB
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
MH  - *Centromere
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosome Painting
MH  - *Chromosomes, Human, Pair 21
MH  - Down Syndrome/genetics
MH  - Facies
MH  - *Gene Deletion
MH  - Gene Library
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Male
MH  - Models, Genetic
MH  - Monosomy
MH  - Phenotype
MH  - *Trisomy
EDAT- 2000/04/05 09:00
MHDA- 2000/04/29 09:00
CRDT- 2000/04/05 09:00
PHST- 2000/04/05 09:00 [pubmed]
PHST- 2000/04/29 09:00 [medline]
PHST- 2000/04/05 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000313)91:2<116::AID-AJMG7>3.0.CO;2-Q [pii]
AID - 10.1002/(sici)1096-8628(20000313)91:2<116::aid-ajmg7>3.0.co;2-q [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Mar 13;91(2):116-22. doi: 
      10.1002/(sici)1096-8628(20000313)91:2<116::aid-ajmg7>3.0.co;2-q.