CYTOGENETIC SURVEY OF APERT SYNDROME - REEVALUATION OF A TRANSLOCATION (29)(P11.2Q34.2) IN A PATIENT SUGGESTS THE BREAKPOINTS ARE NOT RELATED TO THE DISORDER

被引：8

作者：

LEWANDA, AF

COHEN, MM

HOOD, J

MORSEY, S

WALTERS, M

KENNEDY, JL

JABS, EW

机构：

[1] JOHNS HOPKINS SCH MED,CTR MED GENET,DEPT PEDIAT,BALTIMORE,MD 21287

[2] JOHNS HOPKINS SCH MED,CTR MED GENET,DEPT MED,BALTIMORE,MD

[3] JOHNS HOPKINS SCH MED,CTR MED GENET,DEPT SURG,BALTIMORE,MD

[4] KENNEDY KRIEGER INST,BALTIMORE,MD

[5] DALHOUSIE UNIV,DEPT ORAL BIOL,HALIFAX,NS,CANADA

[6] DALHOUSIE UNIV,DEPT PEDIAT,HALIFAX,NS,CANADA

[7] E CAROLINA UNIV,SCH MED,DEPT PEDIAT,GENET SECT,GREENVILLE,NC

[8] ST MARGARETS HOSP,DEPT PEDIAT,DIV NEONATOL,BOSTON,MA

来源：

AMERICAN JOURNAL OF DISEASES OF CHILDREN | 1993年 / 147卷 / 12期

关键词：

D O I：

10.1001/archpedi.1993.02160360048016

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The association of Apert syndrome with a translocation (2p-;Cq+) was previously reported in this journal. On reexamination using high-resolution chromosome banding, results showed both the patient and her unaffected father carry the balanced translocation (2;9)(p11.2;q34.2). This finding suggests the rearrangement is unlikely to be the cause of her disorder. Other chromosomal anomalies and genes known to be located at or near these breakpoints and a cytogenetic survey of patients with Apert syndrome are reviewed.

引用

页码：1306 / 1308

页数：3

共 16 条

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