PMID- 9678410
OWN - NLM
STAT- MEDLINE
DCOM- 19981022
LR  - 20191102
IS  - 0964-2633 (Print)
IS  - 0964-2633 (Linking)
VI  - 42 ( Pt 3)
DP  - 1998 Jun
TI  - A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence 
      in situ hybridization.
PG  - 254-8
AB  - A case is presented in which monosomy 21 was detected by routine cytogenetics and 
      fluorescence in situ hybridization (FISH) studies demonstrated an unbalanced 
      translocation t(5;21). The patient was partially monosomic for both 5p and 21q. 
      The phenotype of the infant showed some features of the 5p- (cri-du-chat) 
      syndrome, but there were also features present which were uncharacteristic of 
      this syndrome. The present findings, combined with similar cases reported in the 
      literature, provide further support for a proximal monosomy 21q syndrome.
FAU - Flaherty, L
AU  - Flaherty L
AD  - Department of Cytogenetics, New Children's Hospital, Westmead, New South Wales, 
      Australia.
FAU - Moloney, J
AU  - Moloney J
FAU - Watson, N
AU  - Watson N
FAU - Robson, L
AU  - Robson L
FAU - Bousfield, L
AU  - Bousfield L
FAU - Smith, A
AU  - Smith A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - England
TA  - J Intellect Disabil Res
JT  - Journal of intellectual disability research : JIDR
JID - 9206090
SB  - IM
MH  - Chromosome Aberrations/genetics
MH  - Chromosome Deletion
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Chromosomes, Human, Pair 5/genetics
MH  - Cri-du-Chat Syndrome/genetics
MH  - Female
MH  - Fluorescence
MH  - Humans
MH  - In Situ Hybridization/methods
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Monosomy/*diagnosis/*genetics
RF  - 15
EDAT- 1998/07/25 00:00
MHDA- 1998/07/25 00:01
CRDT- 1998/07/25 00:00
PHST- 1998/07/25 00:00 [pubmed]
PHST- 1998/07/25 00:01 [medline]
PHST- 1998/07/25 00:00 [entrez]
AID - 10.1046/j.1365-2788.1998.00118.x [doi]
PST - ppublish
SO  - J Intellect Disabil Res. 1998 Jun;42 ( Pt 3):254-8. doi: 
      10.1046/j.1365-2788.1998.00118.x.