Deletion of the long arm of chromosome 6: two new patients and literature review.
Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46,XX,del(6)(q16.2q23.1)], and a boy with a terminal deletion [46,XY,del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.
Evers
L J
LJ
Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
Schrander-Stumpel
C T
CT
Engelen
J J
JJ
Hoorntje
T M
TM
Pulles-Heintzberger
C F
CF
Schrander
J J
JJ
Albrechts
J C
JC
Peters
J
J
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D008297:Male