Upper airway malformation associated with partial trisomy 11q

被引：32

作者：

Zhao, HQ ^{[1
]}

Rope, AF ^{[1
]}

Saal, HM ^{[1
]}

Blough-Pfau, RI ^{[1
]}

Hopkin, RJ ^{[1
]}

机构：

[1] Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 120A卷 / 03期

关键词：

chromosome; 11q; trisomy; monosomy; translocation; mental retardation; multiple congenital anomalies; epiglottis; lissencephaly;

D O I：

10.1002/ajmg.a.20134

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

11q trisomy is associated with a recognizable pattern of multiple malformations. Review of the literature reveals the following recurrent themes common to complex and isolated 11q trisomy: mental retardation, pre- and postnatal growth retardation, hypotonia, a distinct pattern of facial features, congenital heart defects, and limb malformations. We report four patients with partial trisomy 11% none of which arose from the common 11/22 translocation. Three of the four patients had the previously unreported finding of upper airway obstruction secondary to a malformed epiglottis. The critical region for this malformation appears to be 11q21-23.2. (C) 2003 Wiley-Liss, Inc.

引用

页码：331 / 337

页数：7

共 40 条

[1]

AURIAS A, 1975, ANN GENET-PARIS, V18, P185

[2]

AYRAUD GA, 1976, ANN GENET-PARIS, V19, P65

[3]

Bader P I, 1978, Birth Defects Orig Artic Ser, V14, P383

[4]

BIEDERMAN BM, 1980, HUM GENET, V53, P173

[5]

deDieSmulders CEM, 1996, AM J MED GENET, V66, P116, DOI 10.1002/(SICI)1096-8628(19961202)66:1<116::AID-AJMG30>3.0.CO

[6]

2-T

[7]

DEFRANCE HF, 1984, CLIN GENET, V25, P295

[8]

Delobel B, 1998, AM J MED GENET, V80, P273, DOI 10.1002/(SICI)1096-8628(19981116)80:3<273::AID-AJMG19>3.3.CO

[9]

2-Y

[10] A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation [J].

Edelmann, L ;

Spiteri, E ;

McCain, N ;

Goldberg, R ;

Pandita, RK ;

Duong, S ;

Fox, J ;

Blumenthal, D ;

Lalani, SR ;

Shaffer, LG ;

Morrow, BE .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (06) :1608-1616

← 1 2 3 4 →