PMID- 9128939
OWN - NLM
STAT- MEDLINE
DCOM- 19970619
LR  - 20220331
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 70
IP  - 2
DP  - 1997 May 16
TI  - A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH 
      and review of literature.
PG  - 174-8
AB  - By using fluorescence in situ hybridization (FISH), we demonstrate a case of 
      monosomy 21 to result from an unbalanced translocation involving the short arm of 
      chromosome 5 and the long arm of chromosome 21. Our case is compared to 3 similar 
      cases of t(5p;21q) reported recently, which were also originally diagnosed as 
      monosomy 21. The breakpoint on chromosome 5 in these cases occurred in the 
      p13-p15 region, whereas the breakpoint on chromosome 21 was in the q21-q22 
      region. Comparison of the clinical findings in these patients demonstrated great 
      similarities. Furthermore, a strong correlation between the clinical 
      manifestations of these patients with cridu-chat syndrome patients was also 
      noted. We suggest that cases with unbalanced t(5p;21q) represent a distinct 
      syndrome which can be grouped under a new category of "5p/21q deletion syndrome."
FAU - Iqbal, M A
AU  - Iqbal MA
AD  - Department of Pathology and Laboratory Medicine, Riyadh, Saudi Arabia.
FAU - Ahmed, M Z
AU  - Ahmed MZ
FAU - Wu, D
AU  - Wu D
FAU - Sakati, N
AU  - Sakati N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Cri-du-Chat Syndrome/*genetics
MH  - Diagnosis, Differential
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Monosomy/*genetics
MH  - *Translocation, Genetic
RF  - 21
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<174::AID-AJMG14>3.0.CO;2-G [pii]
AID - 10.1002/(sici)1096-8628(19970516)70:2<174::aid-ajmg14>3.0.co;2-g [doi]
PST - ppublish
SO  - Am J Med Genet. 1997 May 16;70(2):174-8. doi: 
      10.1002/(sici)1096-8628(19970516)70:2<174::aid-ajmg14>3.0.co;2-g.