PMID- 19664845
OWN - NLM
STAT- MEDLINE
DCOM- 20100322
LR  - 20091116
IS  - 1773-0597 (Electronic)
IS  - 0181-5512 (Linking)
VI  - 32
IP  - 8
DP  - 2009 Oct
TI  - Partial mosaic trisomy 5: a new case report with ocular involvement.
PG  - 533-9
LID - 10.1016/j.jfo.2009.06.004 [doi]
AB  - We describe a new case of a male patient with a small marker chromosome present 
      as 80% mosaic, derived from chromosome 5 with presence of posterior 
      iridolenticular synechia, high hyperopia, epicanthic folds, hypertelorism, 
      moderate developmental delay with lack of speech, macrocephaly, and subtle 
      dysmorphic features including micrognathia, slightly rotated ears, and 
      polydactyly. The karyotype of our patient was as follows: 46, XY/47, XY +mar, 
      characterized by FISH (fluorescence in situ hybridization) using the chromosome 
      five painting probe. Ocular involvement in trisomic 5 subjects is a very rare 
      event. To our knowledge, only two cases have been described to date. The present 
      case contributes to the description of the ocular presentation and the distinct 
      clinical phenotype of de novo partial trisomy 5 syndrome.
FAU - Schlegel, Z
AU  - Schlegel Z
AD  - Ophthalmology Department, Gonesse Hospital, 95503 Gonesse, France. 
      schlegelzuzana@yahoo.fr
FAU - Valent, A
AU  - Valent A
FAU - Hirsch, A
AU  - Hirsch A
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20090806
PL  - France
TA  - J Fr Ophtalmol
JT  - Journal francais d'ophtalmologie
JID - 7804128
SB  - IM
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Eye Diseases/*genetics
MH  - Humans
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Mosaicism
MH  - Phenotype
MH  - Trisomy/*genetics
EDAT- 2009/08/12 09:00
MHDA- 2010/03/23 06:00
CRDT- 2009/08/12 09:00
PHST- 2009/04/29 00:00 [received]
PHST- 2009/06/16 00:00 [accepted]
PHST- 2009/08/12 09:00 [entrez]
PHST- 2009/08/12 09:00 [pubmed]
PHST- 2010/03/23 06:00 [medline]
AID - S0181-5512(09)00258-7 [pii]
AID - 10.1016/j.jfo.2009.06.004 [doi]
PST - ppublish
SO  - J Fr Ophtalmol. 2009 Oct;32(8):533-9. doi: 10.1016/j.jfo.2009.06.004. Epub 2009 
      Aug 6.