PMID- 9111994 OWN - NLM STAT- MEDLINE DCOM- 19970619 LR - 20190816 IS - 0009-9163 (Print) IS - 0009-9163 (Linking) VI - 51 IP - 2 DP - 1997 Feb TI - Centromeric alphoid DNA heteromorphisms of chromosome 21 revealed by FISH-technique. PG - 91-3 AB - The centromeric heterochromatin of chromosome 21 has been evaluated by the fluorescence in situ hybridization (FISH) technique. It was found that the alphoid DNA sequences of pericentromeric regions of chromosome 21 were highly heteromorphic when a centromeric specific probe was hybridized to these sequences. The variations were so extreme that they could even be arbitrarily classified into at least five sizes by comparison with the length of the short arm (p) of chromosome 18. They are negative (1); small (2); medium (3); large (4); and very large (5). We used 15 normal cases and 12 individuals with trisomy 21 (Down syndrome), and the incidences for these five classes were 3.0%, 22.7%, 59.2%, 13.6% and 1.5%, respectively. At least 3% of the chromosomes no. 21 did not show any trace of hybridization signals, which apparently escape detection at interphase level as well. Although, the variations observed in the present study are continuous, the proposed classification may yield some implications for future investigations. FAU - Verma, R S AU - Verma RS AD - Division of Genetics, Long Island College Hospital, SUNY Health Science Center, Brooklyn, USA. FAU - Batish, S D AU - Batish SD FAU - Gogineni, S K AU - Gogineni SK FAU - Kleyman, S M AU - Kleyman SM FAU - Stetka, D G AU - Stetka DG LA - eng PT - Journal Article PL - Denmark TA - Clin Genet JT - Clinical genetics JID - 0253664 RN - 0 (Chromatin) SB - IM CIN - Clin Genet. 1998 Mar;53(3):231-2. PMID: 9630084 MH - Centromere/*genetics MH - Chromatin/*genetics MH - *Chromosomes, Human, Pair 21 MH - Down Syndrome/genetics MH - *Genetic Variation MH - Genetics, Population MH - Humans MH - In Situ Hybridization, Fluorescence/*methods EDAT- 1997/02/01 00:00 MHDA- 1997/02/01 00:01 CRDT- 1997/02/01 00:00 PHST- 1997/02/01 00:00 [pubmed] PHST- 1997/02/01 00:01 [medline] PHST- 1997/02/01 00:00 [entrez] AID - 10.1111/j.1399-0004.1997.tb02426.x [doi] PST - ppublish SO - Clin Genet. 1997 Feb;51(2):91-3. doi: 10.1111/j.1399-0004.1997.tb02426.x.