De novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2-4q31.1.
We report a malformed female infant with de novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)]. The MN blood type analysis of the family members showed that the patient had an intact blood group-MN locus. The locus of the gene responsible for the MN antigen activity is confined to a 4q28.2-4q31.1 segment on the basis of the result of this patient and the previous mapping data.
Department of Clinical Laboratory, Saitama Children's Medical Center, Japan.
K
K
Wakui
T
T
Nishida
J
J
Masuda
T
T
Itoh
D
D
Katsumata
T
T
Ohno
Y
Y
Fukushima
D000015:Abnormalities, Multiple / Q000235:genetics*; D001789:Blood Group Antigens; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006021:Glycophorins / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male
D001789:Blood Group Antigens; D006021:Glycophorins