PMID- 9295085
OWN - NLM
STAT- MEDLINE
DCOM- 19971020
LR  - 20220410
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 72
IP  - 1
DP  - 1997 Oct 3
TI  - Report of two new cases of Pallister-Killian syndrome confirmed by FISH: 
      tissue-specific mosaicism and loss of i(12p) by in vitro selection.
PG  - 106-10
AB  - Tissue-specific mosaic distribution of an additional isochromosome 12p is the 
      characteristic chromosomal aberration in Pallister-Killian syndrome. Often it is 
      confined to fibroblasts, whereas lymphocytes show a normal karyotype. Two cases 
      are reported in which the distribution of the additional i(12p) was analysed in 
      various tissues. The isochromosomes were characterised by conventional banding 
      technics and fluorescence in situ hybridization (FISH). In the first case, 
      diagnosed prenatally, 4 different tissues were analysed. A direct preparation of 
      chorionic villi (21 gestational weeks) showed an extra marker chromosome in 19% 
      and two additional copies in 3% of the examined cells. In two cultures of 
      amniocytes (17 and 21 weeks), the i(12p) was observed in 23% and 12%, 
      respectively. It was absent in cultured lymphocytes of fetal blood (21 weeks). 
      The fibroblast long-term culture of umbilical cord showed the i(12p) in 100% of 
      metaphases. In the second case of a term infant the i(12p) was diagnosed in 
      cultured lymphocytes (4%) and fibroblasts (93%). Secondary loss of the 
      isochromosome was evaluated by in vitro selection in case 2 analysing metaphases 
      and interphases of fibroblasts in the 1st, 4th and 5th subculture using FISH. The 
      proportion of cells with i(12p) decreased from 93% to 40% and to 28%, 
      respectively. DNA analysis in case 1 showed a maternal meiotic origin of the 
      i(12p). The prenatally detected clinical findings in both cases showed 
      characteristic abnormalities of the Pallister-Killian syndrome.
FAU - Schubert, R
AU  - Schubert R
AD  - Institute of Human Genetics, University of Bonn, Germany.
FAU - Viersbach, R
AU  - Viersbach R
FAU - Eggermann, T
AU  - Eggermann T
FAU - Hansmann, M
AU  - Hansmann M
FAU - Schwanitz, G
AU  - Schwanitz G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant, Newborn
MH  - Isochromosomes/*genetics
MH  - Karyotyping
MH  - Metaphase/genetics
MH  - Mosaicism/*genetics
MH  - Organ Specificity
MH  - Polymerase Chain Reaction
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Syndrome
EDAT- 1997/09/19 00:00
MHDA- 2000/06/20 09:00
CRDT- 1997/09/19 00:00
PHST- 1997/09/19 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/09/19 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19971003)72:1<106::AID-AJMG21>3.0.CO;2-U [pii]
AID - 10.1002/(sici)1096-8628(19971003)72:1<106::aid-ajmg21>3.0.co;2-u [doi]
PST - ppublish
SO  - Am J Med Genet. 1997 Oct 3;72(1):106-10. doi: 
      10.1002/(sici)1096-8628(19971003)72:1<106::aid-ajmg21>3.0.co;2-u.