PMID- 12838568
OWN - NLM
STAT- MEDLINE
DCOM- 20040218
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 120A
IP  - 3
DP  - 2003 Jul 30
TI  - Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?
PG  - 429-33
AB  - We describe an 8.5-year-old boy with facial dysmorphism consisting of a round and 
      flat face, telecanthus, periorbital fullness, short nose, downturned corners of 
      the mouth, and micrognathia. In addition, profound mental retardation, tetralogy 
      of Fallot, and renal dysplasia were present. Tentative clinical diagnoses during 
      the 6-year follow-up included Down, Hennekam, and Noonan syndromes. Refinement of 
      cytogenetic techniques, especially increase of banding resolution in conventional 
      cytogenetic analysis, gave the clue to the correct diagnosis, which was proven by 
      fluorescence in situ hybridization (FISH) with whole chromosome paints and single 
      copy probes. We could show that he had an unbalanced translocation inherited from 
      his father resulting in partial monosomy 18p and partial trisomy 20p. The 
      combination of deletion 18p/duplication 20p was previously reported in three 
      patients and seems to have a clinically recognizable face.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Wieczorek, Dagmar
AU  - Wieczorek D
AD  - Institut fur Humangenetik, Universitatsklinikum, Essen, Germany. 
      dagmar.wieczorek@uni-essen.de
FAU - Bartsch, Oliver
AU  - Bartsch O
FAU - Gillessen-Kaesbach, Gabriele
AU  - Gillessen-Kaesbach G
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
SB  - IM
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 18
MH  - *Chromosomes, Human, Pair 20
MH  - Cytogenetic Analysis
MH  - Developmental Disabilities/genetics/physiopathology
MH  - *Facies
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Trisomy
EDAT- 2003/07/03 05:00
MHDA- 2004/02/19 05:00
CRDT- 2003/07/03 05:00
PHST- 2003/07/03 05:00 [pubmed]
PHST- 2004/02/19 05:00 [medline]
PHST- 2003/07/03 05:00 [entrez]
AID - 10.1002/ajmg.a.20060 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Jul 30;120A(3):429-33. doi: 10.1002/ajmg.a.20060.