PMID- 20420031
OWN - NLM
STAT- MEDLINE
DCOM- 20100514
LR  - 20100427
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 21
IP  - 1
DP  - 2010
TI  - Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy.
PG  - 61-7
AB  - We describe a girl with microcephaly, short stature, coarse face, severe growth 
      and developmental delay, seizures, hypertonia, bilateral flexion contractures of 
      the knees, and a de novo 21;21 translocation trisomy 21 in peripheral blood 
      lymphocytes. Fluorescence in situ hybridization (FISH) analysis confirmed the 
      trisomy 21 translocation using whole chromosome painting probe 21 (WCP21). 
      Chromosome analysis which was also performed on skin fibroblasts and revealed 
      mosaicism for a translocation trisomy 21 cell line (22.3%) as well as a second 
      cell line consisting of one normal chromosome 21 and a small ring chromosome 21 
      derived from the translocation 21q21q (61%) and a third line consisting of 
      monosomy 21 (16.7%). FISH analyses by LS121 probe for the critical (21q22.2-22.3) 
      region of Down syndrome (DS) on interphase blood cells resulted with 30% two 
      signals and 70% three signals, skin fibroblasts showed 84% single signal, 9% two 
      signals and 7% three signals. The size of ring chromosome 21 in skin fibroblasts 
      was very small and probably there was a large, more proximally located deletion 
      including chromosome 21q22 band. We consider that the atypical DS phenotype of 
      the patient originated from the small ring chromosome 21 and the monosomy 21 in 
      the skin fibroblasts and other tissues not available for analysis. Therefore, the 
      clinical findings of the patient were most similar to monosomy 21 mosaicism 
      syndrome.
FAU - Tuysuz, B
AU  - Tuysuz B
AD  - Division of Genetics, Department of Pediatrics, Istanbul University, Cerrahpasa 
      Faculty of Medicine, Istanbul, Turkey. beyhan@istanbul.edu.tr
FAU - Yavuz, A
AU  - Yavuz A
FAU - Ozdil, M
AU  - Ozdil M
FAU - Caferler, J
AU  - Caferler J
FAU - Ozon, H
AU  - Ozon H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Child
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Down Syndrome/*genetics
MH  - Female
MH  - Humans
MH  - *Monosomy
MH  - *Mosaicism
MH  - *Ring Chromosomes
EDAT- 2010/04/28 06:00
MHDA- 2010/05/15 06:00
CRDT- 2010/04/28 06:00
PHST- 2010/04/28 06:00 [entrez]
PHST- 2010/04/28 06:00 [pubmed]
PHST- 2010/05/15 06:00 [medline]
PST - ppublish
SO  - Genet Couns. 2010;21(1):61-7.