DENOVO DUPLICATION OF 17P [DUP(17)(P12-]P11.2)] - REPORT OF AN ADDITIONAL CASE WITH CONFIRMATION OF THE CYTOGENETIC, PHENOTYPIC, AND DEVELOPMENTAL ASPECTS

被引:28
作者
KOZMA, C
MECK, JM
LOOMIS, KJ
GALINDO, HC
机构
[1] GEORGETOWN UNIV,MED CTR,DEPT OBSTET & GYNECOL,WASHINGTON,DC 20007
[2] DIV SPECIAL EDUC,DIST COLUMBIA PUBL SCH,WASHINGTON,DC
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 04期
关键词
CHROMOSOME-17; CHROMOSOMAL DUPLICATION SYNDROME; INTERSTITIAL DUPLICATION 17P; 17P DELETION; CLUB FEET; DEVELOPMENTAL DEFICITS;
D O I
10.1002/ajmg.1320410413
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We describe an apparent de novo duplication of bands 17p11.2 and p12. A comparison of the manifestations of a previously reported case with a similar karyotype [Magenis et al., Am J Med Genet 24:415-420 (1986)] and of our own case seems to indicate a characteristic pattern which includes prenatal and postnatal growth retardation, facial changes, club feet, and mild developmental deficits. The prominent facial changes are a relatively triangular face, downslanted palpebral fissures, malocclusion, and abnormal ears. In addition, this condition appears to be milder than other duplications of the short arm of chromosome 17, namely trisomy 17p and dup(17)(p11.2 --> cen).
引用
收藏
页码:446 / 450
页数:5
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