Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation

被引：18

作者：

Dollfus, H

Joanny-Flinois, O

Doco-Fenzy, M

Veyre, L

Joanny-Flinois, L

Khoury, M

Jonveaux, P

Abitbol, M

Dufier, JL

机构：

[1] Hop Necker Enfants Malad, Serv Ophtalmol, Paris, France

[2] Ctr Hosp Charleville Mezieres, Serv Pediat, Charleville Mezieres, France

[3] Hop Maison Blanche, Lab Cytogenet, Reims, France

[4] Hop Brabois, Genet Lab, Vandoeuvre Nancy, France

[5] Ctr Hosp Laon, CAMPS, Laon, France

[6] Fac Med Necker Enfants Malad, Lab CERTO, Paris, France

来源：

AMERICAN JOURNAL OF OPHTHALMOLOGY | 1998年 / 125卷 / 03期

关键词：

D O I：

10.1016/S0002-9394(99)80157-3

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PA chi 6 gene were performed. RESULTS: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in situ hybridization and the search for mutations excluded direct implication of the PA chi 6 gene. CONCLUSION: This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype. (C) 1998 by Elsevier Science Inc. All rights reserved.

引用

页码：397 / 399

页数：3

共 5 条

[1]

DELLEMAN JW, 1973, KLIN MONATSBL AUGENH, V163, P528

[2]

FRANCOIS J, 1983, OPHTHALMIC PAEDIAT G, V4, P29

[3]

GILLESPIE FD, 1965, ARCH OPHTHALMOL-CHIC, V73, P338

[4] ABSENCE OF PAX6 GENE-MUTATIONS IN GILLESPIE SYNDROME (PARTIAL ANIRIDIA, CEREBELLAR-ATAXIA, AND MENTAL-RETARDATION) [J].

GLASER, T ;

TON, CCT ;

MUELLER, R ;

PETZLERLER, ML ;

OLIVER, C ;

NEVIN, NC ;

HOUSMAN, DE ;

MAAS, RL .

GENOMICS, 1994, 19 (01) :145-148

[5] THE HUMAN PAX6 GENE IS MUTATED IN 2 PATIENTS WITH ANIRIDIA [J].

JORDAN, T ;

HANSON, I ;

ZALETAYEV, D ;

HODGSON, S ;

PROSSER, J ;

SEAWRIGHT, A ;

HASTIE, N ;

VANHEYNINGEN, V .

NATURE GENETICS, 1992, 1 (05) :328-332

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