SHWACHMAN SYNDROME-ASSOCIATED WITH DE-NOVO RECIPROCAL TRANSLOCATION T(6-12)(Q16.2-Q21.2)

被引：18

作者：

MASUNO, M

IMAIZUMI, K

NISHIMURA, G

NAKAMURA, M

SAITO, I

AKAGI, K

KUROKI, Y

机构：

[1] KANAGAWA CHILDRENS MED CTR,DIV MED GENET,MINAMI KU,YOKOHAMA,KANAGAWA 232,JAPAN

[2] KANAGAWA CHILDRENS MED CTR,DIV INFECT IMMUNOL & RHEUMATOL,MINAMI KU,YOKOHAMA,KANAGAWA 232,JAPAN

[3] DOKKYO UNIV,SCH MED,DEPT RADIOL,MIBU,TOCHIGI 32102,JAPAN

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 11期

关键词：

D O I：

10.1136/jmg.32.11.894

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a de novo apparently balanced reciprocal translocation t(6;12) (q16.2; q21.2) in an 18 month old girl. with Shwachman syndrome, characterised by exocrine pancreatic insufficiency and bone marrow dysfunction. The cause of this syndrome is unknown, although autosomal recessive inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions for a gene responsible for Shwachman syndrome.

引用

页码：894 / 895

页数：2

共 15 条

[1] SHWACHMANS SYNDROME - A REVIEW OF 21 CASES
AGGETT, PJ
CAVANAGH, NPC
MATTHEW, DJ
PINCOTT, JR
SUTCLIFFE, J
HARRIES, JT
[J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1980, 55 (05) : 331 - 347
[2] Born EP, 1993, J COMPUT ASSIST TOMO, V17, P474
[3] CYTOGENETIC FINDINGS IN 200 CHILDREN WITH MENTAL-RETARDATION AND MULTIPLE CONGENITAL-ANOMALIES OF UNKNOWN CAUSE
COCO, R
PENCHASZADEH, VB
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 12 (02): : 155 - 173
[4] EDWARDS JH, 1982, LANCET, V2, P322
[5] BIALLELIC DNA POLYMORPHISM OF AN ALPHA-TUBULIN GENE FAMILY MEMBER ON CHROMOSOME-12 [TUBA MSPI/2.2-2.0 KB]
GATTI, RA
SHAKED, R
WEI, S
MOHANDAS, TK
SALSER, W
[J]. NUCLEIC ACIDS RESEARCH, 1987, 15 (19) : 8119 - 8119
[6] HUSTINX TWJ, 1975, J MED GENET, V12, P207
[7] PSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH SHWACHMAN SYNDROME
KENT, A
MURPHY, GH
MILLA, P
[J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1990, 65 (12) : 1349 - 1352
[8] IS SHWACHMAN SYNDROME (MCKUSICK-26040) A CHROMOSOME BREAKAGE SYNDROME
KOIFFMANN, CP
GONZALEZ, CH
SOUZA, DH
ROMANI, EG
KIM, CA
WAJNTAL, A
[J]. HUMAN GENETICS, 1991, 87 (01) : 106 - 107
[9] MULTIPLE MALFORMATION SYNDROME INCLUDING CLEFT-LIP AND PALATE AND CARDIAC ABNORMALITIES DUE TO AN INTERSTITIAL DELETION OF CHROMOSOME-12Q
MEINECKE, P
MEINECKE, R
[J]. JOURNAL OF MEDICAL GENETICS, 1987, 24 (03) : 187 - 187
[10] SHWACHMAN H, 1964, J PEDIATR, V65, P645

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