PMID- 8362906
OWN - NLM
STAT- MEDLINE
DCOM- 19930930
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 46
IP  - 6
DP  - 1993 Jul 1
TI  - Unbalanced translocation, t(18;21), detected by fluorescence in situ 
      hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.
PG  - 647-51
AB  - We report on an 8-year-old girl with minor anomalies consistent with 18q- 
      syndrome and mild developmental delay. Initially cytogenetics showed a terminal 
      deletion of chromosome 21 with mosaicism for a small ring chromosome 21 as the 
      only apparent karyotypic abnormality: mos 45,XX,-21/46,XX,+r(21) (48%/52%). 
      Further studies including FISH and DNA analysis demonstrated a de novo unbalanced 
      translocation of chromosomes 18 and 21 with the likely breakpoints in 18q23 and 
      21q21.1. Most of 21q was translocated to the distal long arm of one chromosome 
      18, and this derivative 18 appeared to lack 18q23-qter. The small ring chromosome 
      21 [r(21)], present in only 52% of the patient's blood lymphocytes, did not 
      appear to be associated with the abnormal phenotype since all 13 chromosome 21 
      markers that were examined in genomic DNA were present in 2 copies, and the 
      phenotype of the patient was consistent with the 18q- syndrome. The karyotype was 
      reinterpreted as mos 45,XX,-18,-21,+der(18) t(18;21) 
      (q23;q21.1)/46,XX,-18,-21,+der(18) t(18;21) (q23;q21.1), +r(21) (p13q21.1) 
      (48%/52%). These results demonstrate the power of FISH in conjunction with DNA 
      analysis for examination of chromosome rearrangements that may be misclassified 
      by traditional cytogenetic studies alone.
FAU - McGinniss, M J
AU  - McGinniss MJ
AD  - Center for Medical Genetics, Johns Hopkins University School of Medicine, 
      Baltimore, Maryland.
FAU - Rosenberg, C
AU  - Rosenberg C
FAU - Stetten, G
AU  - Stetten G
FAU - Schinzel, A A
AU  - Schinzel AA
FAU - Binkert, F
AU  - Binkert F
FAU - Petersen, M B
AU  - Petersen MB
FAU - Kearns, W G
AU  - Kearns WG
FAU - Kazazian, H H Jr
AU  - Kazazian HH Jr
FAU - Pearson, P L
AU  - Pearson PL
FAU - Antonarakis, S E
AU  - Antonarakis SE
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA Probes)
SB  - IM
MH  - Cell Line
MH  - Child
MH  - *Chromosomes, Human, Pair 18
MH  - *Chromosomes, Human, Pair 21
MH  - DNA Probes
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Repetitive Sequences, Nucleic Acid
MH  - *Ring Chromosomes
MH  - Syndrome
MH  - *Translocation, Genetic
EDAT- 1993/07/01 00:00
MHDA- 2001/03/28 10:01
CRDT- 1993/07/01 00:00
PHST- 1993/07/01 00:00 [pubmed]
PHST- 2001/03/28 10:01 [medline]
PHST- 1993/07/01 00:00 [entrez]
AID - 10.1002/ajmg.1320460609 [doi]
PST - ppublish
SO  - Am J Med Genet. 1993 Jul 1;46(6):647-51. doi: 10.1002/ajmg.1320460609.