A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization.
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.
Department of Cytogenetics, New Children's Hospital, Westmead, New South Wales, Australia.
L
L
Flaherty
J
J
Moloney
N
N
Watson
L
L
Robson
L
L
Bousfield
A
A
Smith
D002869:Chromosome Aberrations / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003410:Cri-du-Chat Syndrome / Q000235:genetics; D005260:Female; D005453:Fluorescence; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D007231:Infant, Newborn; D007621:Karyotyping; D009006:Monosomy / Q000175:diagnosis* / Q000235:genetics*