PMID- 7573156
OWN - NLM
STAT- MEDLINE
DCOM- 19951120
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 58
IP  - 1
DP  - 1995 Jul 31
TI  - Partial trisomy 13q identified by sequential fluorescence in situ hybridization.
PG  - 50-3
AB  - We report on a 19-month-old boy with partial trisomy 13q resulting from a 
      probable balanced translocation involving chromosomes 1 and 13. The infant 
      presented with omphalocele, malrotation, microcephaly with overriding skull 
      bones, micrognathia, apparently low-set ears, rocker-bottom feet, and congenital 
      heart disease, findings suggestive of trisomy 13. Karyotypic studies from 
      peripheral blood lymphocytes documented an unbalanced karyotype 46,XY,-1,+der(1). 
      The mother's chromosomes were normal, and the father was not available. 
      Conventional cytogenetic techniques were unable to identify the extra material on 
      the terminal 1q. Using fluorescence in situ hybridization (FISH) on the 
      GTL-banded metaphases, the extra material on 1q was identified as the terminal 
      long arm of 13, thus resulting in partial trisomy 13 (q32-qter).
FAU - Rao, V V
AU  - Rao VV
AD  - H.A. Chapman Institute of Medical Genetics, Children's Medical Center, Tulsa, 
      Oklahoma, USA.
FAU - Carpenter, N J
AU  - Carpenter NJ
FAU - Gucsavas, M
AU  - Gucsavas M
FAU - Coldwell, J
AU  - Coldwell J
FAU - Say, B
AU  - Say B
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  - Abnormalities, Multiple/*genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 1
MH  - *Chromosomes, Human, Pair 13
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Translocation, Genetic
MH  - *Trisomy
EDAT- 1995/07/31 00:00
MHDA- 1995/07/31 00:01
CRDT- 1995/07/31 00:00
PHST- 1995/07/31 00:00 [pubmed]
PHST- 1995/07/31 00:01 [medline]
PHST- 1995/07/31 00:00 [entrez]
AID - 10.1002/ajmg.1320580111 [doi]
PST - ppublish
SO  - Am J Med Genet. 1995 Jul 31;58(1):50-3. doi: 10.1002/ajmg.1320580111.