PMID- 12702163
OWN - NLM
STAT- MEDLINE
DCOM- 20040203
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 63
IP  - 4
DP  - 2003 Apr
TI  - Molecular characterization of a unique de novo 15q deletion associated with 
      Prader-Willi syndrome and central visual impairment.
PG  - 297-302
AB  - We report a 2-year-old boy with Prader-Willi Syndrome (PWS) caused by a deletion 
      of the PWS critical region as a result of an unbalanced translocation t(3;15). 
      Additional features, including central visual impairment, relative macrocephaly, 
      retrognathia, preauricular tags, and bilateral club-feet, were noticed. The 
      extension of the deletion was determined by fluorescence in situ hybridization 
      (FISH) analysis using 11 region-specific YAC clones. Nine YACs were found to be 
      deleted, allowing us to determine that the deletion is larger than in patients 
      with typical PWS deletions. The karyotype of this patient can thus be designated: 
      45,XY,-15,der(3)t(3;15)(qter;q14).ish der(3)t(3;15)(qter;q14) 
      (wcp3+,wcp15+,D15S10-,PML+,D15Z1-,D3S4560+,801_f_9x1, 815_e_6x2) de novo. 
      Molecular analyses using seven polymorphic markers helped to narrow down the 
      breakpoint between marker ACTC.PC3 and the distal end of the YAC 815_e_6. These 
      results provide evidence that haploinsufficiency for genes in 15q13-q14, not 
      affected in common PWS deletions, is associated with the additional features 
      found in the patient, including a central visual impairment.
FAU - Windpassinger, C
AU  - Windpassinger C
AD  - Institute of Medical Biology and Human Genetics, and University Clinic for 
      Ophthalmology, University of Graz, Austria.
FAU - Petek, E
AU  - Petek E
FAU - Wagner, K
AU  - Wagner K
FAU - Langmann, A
AU  - Langmann A
FAU - Buiting, K
AU  - Buiting K
FAU - Kroisel, P M
AU  - Kroisel PM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Yeast
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - *Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Prader-Willi Syndrome/*genetics
MH  - Translocation, Genetic/genetics
MH  - Vision Disorders/*genetics
EDAT- 2003/04/19 05:00
MHDA- 2004/02/05 05:00
CRDT- 2003/04/19 05:00
PHST- 2003/04/19 05:00 [pubmed]
PHST- 2004/02/05 05:00 [medline]
PHST- 2003/04/19 05:00 [entrez]
AID - 059 [pii]
AID - 10.1034/j.1399-0004.2003.00059.x [doi]
PST - ppublish
SO  - Clin Genet. 2003 Apr;63(4):297-302. doi: 10.1034/j.1399-0004.2003.00059.x.