Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10.
We studied a baby born with physical features suggestive of the aminopterin syndrome, but without exposure of the mother to aminopterin during pregnancy. G-banded chromosomes from peripheral blood lymphocytes had a normal 46,XX pattern. However, in 50 skin fibroblasts there was a normal female karyotype in 5 cells and 45 cells showed an apparently balanced reciprocal translocation involving the long arm of chromosome 5 (band q35) and the long arm of chromosome 10 (band q22). The relation of this mosaicism to the abnormal phenotype is unclear.
Chen
M F
MF
Department of Pathology, Montreal Children's Hospital, Quebec, Canada.
Vekemans
M
M
Meagher-Villemure
K
K
Outerbridge
E
E
Fraser
F C
FC
Der Kaloustian
V M
VM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000630:Aminopterin / Q000009:adverse effects*; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10; D002895:Chromosomes, Human, Pair 5; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008588:Meningocele / Q000235:genetics; D009030:Mosaicism; D012131:Respiratory Insufficiency; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014178:Translocation, Genetic
D000630:Aminopterin