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

K Wakui; T Nishida; J Masuda; T Itoh; D Katsumata; T Ohno; Y Fukushima

doi:10.1007/BF01876577

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

Jinrui Idengaku Zasshi. 1991 Jun;36(2):149-53. doi: 10.1007/BF01876577.

Authors

K Wakui¹, T Nishida, J Masuda, T Itoh, D Katsumata, T Ohno, Y Fukushima

Affiliation

¹ Department of Clinical Laboratory, Saitama Children's Medical Center, Japan.

PMID: 1920913
DOI: 10.1007/BF01876577

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Blood Group Antigens
Chromosome Deletion*
Chromosome Mapping
Chromosomes, Human, Pair 4*
Female
Glycophorins / genetics
Humans
Infant
Karyotyping
Male

Substances

Blood Group Antigens
Glycophorins