PMID- 9128934
OWN - NLM
STAT- MEDLINE
DCOM- 19970619
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 70
IP  - 2
DP  - 1997 May 16
TI  - Inherited unbalanced subtelomeric translocation in a child with 8p- and Angelman 
      syndromes.
PG  - 150-4
AB  - A 10 1/2-month-old boy was found to have an unbalanced karyotype, 
      45,XY,der(8)t(8;15) (p23.3;q13). One of 83 analyzed cells also contained an 
      unidentified small marker. Fluorescence in situ hybridization (FISH) using cosmid 
      probes for SNRPN, D15S10, and GABRB3 for the Prader-Willi syndrome (PWS)/Angelman 
      syndrome (AS) critical region were not present on the derived chromosome. The 
      child had some physical findings compatible with monosomy 8p. The mother also was 
      a balanced carrier for the translocation. She also had 2/80 cells with an 
      additional small marker chromosome, similar in size to the extra chromosome in 
      the one cell of the propositus. FISH using an 8 paint did not show the reciprocal 
      exchange on the der(15) but was demonstrated by using an 8p telomeric probe. At 
      18 months of age the child has some manifestations of AS. Earlier diagnosis may 
      have been masked by the 8p- phenotype, or related to difficulty in diagnosing AS 
      in infants.
FAU - Wenger, S L
AU  - Wenger SL
AD  - Department of Pediatrics, University of Pittsburgh, Pennsylvania, USA.
FAU - Sell, S L
AU  - Sell SL
FAU - Painter, M J
AU  - Painter MJ
FAU - Steele, M W
AU  - Steele MW
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Angelman Syndrome/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Pedigree
MH  - Phenotype
MH  - Syndrome
MH  - Telomere
MH  - *Translocation, Genetic
EDAT- 1997/05/16 00:00
MHDA- 2000/06/20 09:00
CRDT- 1997/05/16 00:00
PHST- 1997/05/16 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/05/16 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19970516)70:2<150::AID-AJMG9>3.0.CO;2-1 [pii]
PST - ppublish
SO  - Am J Med Genet. 1997 May 16;70(2):150-4.