|
|||||
|
|
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 |
|
| Authors: | Keiko Wakui Toshiro Nishida Jun-ichiro Masuda Takeshi Itoh Daisuke Katsumata Tsutomu Ohno Yoshimitsu Fukushima |
| Affiliation: | 1. Department of Clinical Laboratory, Saitama Children's Medical Center, Magome, 339, Iwatsuki, Saitama, Japan 2. Division of Neunatology, Saitama Children's Medical Center, Magome, 339, Iwatsuki, Saitama, Japan 3. Division of Medical Genetics, Saitama Children's Medical Center, Magome, 339, Iwatsuki, Saitama, Japan |
| Abstract: | We report a malformed female infant withde 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. |
| Keywords: | interstitial deletion of 4q blood group-MN locus glycophorin A gene mapping |
| 本文献已被 SpringerLink 等数据库收录！ | |