22q11 Deletion in children with cleft lip and palate - is routine screening justified?

被引：11

作者：

Bashir, Muhammad Asim ^{[1
]}

Hodgkinson, Peter D. ^{[1
]}

Montgomery, Tara ^{[1
]}

Splitt, Miranda ^{[1
]}

机构：

[1] Royal Victoria Infirm, Cleft Lip & Palate Serv, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England

来源：

JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY | 2008年 / 61卷 / 02期

关键词：

cleft lip and palate; 22q11; deletion; vascular abnormalities; psychiatric disorders; developmental delay; screening;

D O I：

10.1016/j.bjps.2007.06.018

中图分类号：

R61 [外科手术学];

学科分类号：

摘要：

Objective: To ascertain the prevalence of 22q11 deletion in children with a diagnosis of cleft lip and/or palate that had been referred to the Cleft Lip Et Palate Service, Newcastle-upon-Tyne. Design: Retrospective analysis of results of 22q11 FISH testing performed in all such referrals. Participants: 191 children, of whom 13 had a bilateral cleft tip and palate, two had a median cleft, 77 had a cleft palate only, 44 had a unilateral cleft lip, 47 had a unilateral cleft Lip and palate and eight had a submucous cleft palate. Results: nine patients had a positive 22q11 FISH test. Conclusion: This represents a higher percentage than has been previously reported. All children with cleft lip and/or palate should routinely have a 22q11 FISH test in view of the implications of a diagnosis of velocardiofacial syndrome. (c) 2008 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

引用

页码：130 / 132

页数：3

共 23 条

[1]

Bassett AS, 1998, AM J MED GENET, V81, P328, DOI 10.1002/(SICI)1096-8628(19980710)81:4<328::AID-AJMG10>3.3.CO

[2]

2-8

[3]

DAVIS HJ, 1914, P R SC MED, V7, P104

[4]

DINGMAN RO, 1963, C SERIES EXCERPTA ME, V66, P220