RING CHROMOSOME 18(46,XX,18R)

被引：9

作者：

CENANI, A

PFEIFFER, RA

SIMON, HA

机构：

[1] Institut für Humangenetik der Westfälischen Wilhelms-Universität, Münster

[2] Elisabeth-Kinderkrankenhaus, Oldenburg

来源：

HUMANGENETIK | 1969年 / 7卷 / 04期

关键词：

D O I：

10.1007/BF00283558

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Description of a new case of 46,XX,18r. Features which are similar to those seen in 18q- anomaly are dystrophy, microcephaly, epicanthic folds, strabism, digital whorl patterns and IgA deficiency. © 1969 Springer-Verlag.

引用

页码：351 / &

共 15 条

[1]

Cenani A, 1969, Arch Kinderheilkd, V178, P266

[2]

DEGROUCHY J, 1968, ANN GENET-PARIS, V11, P33

[3] IGA DEFICIENCY ASSOCIATED WITH PARTIAL DELETION OF CHROMOSOME 18 [J].

FEINGOLD, M ;

SCHWARTZ, RS ;

ATKINS, L ;

ANDERSON, R ;

BARTSOCA.CS ;

PAGE, DL ;

LITTLEFI.JW .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1969, 117 (02) :129-&

[4]

FINLEY SC, 1968, LANCET, V1, P1095

[5]

FUJITA H, 1968, Japanese Journal of Human Genetics, V13, P104

[6]

HOOFT C, 1968, Acta Paediatrica Belgica, V22, P69

[7]

JEUNE M, 1967, ARCH FRANC PEDIAT, V22, P845

[8] 2 PATIENTS WITH A 46,20,ER CHROMOSOME CONSTITUTION [J].

LEISTI, J ;

GRIPENBERG, U ;

KIVALO, E ;

PALO, J ;

VONSCHOL.B ;

SUOMALAINEN, E .

ACTA PAEDIATRICA SCANDINAVICA, 1968, 57 (05) :441-+

[9]

MIKEL'SAAR A.-V. N., 1967, GENETIKA, V5, P63

[10]

RICHARDS BW, 1968, LANCET, V1, P1426

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