Deletion 2p15-16.1 Syndrome: Case Report and Review

被引：26

作者：

Prontera, Paolo ^{[1
,2
]}

Bernardini, Laura ^{[3
]}

Stangoni, Gabriela

Capalbo, Anna ^{[3
]}

Rogaia, Daniela ^{[1
,2
]}

Romani, Rita ^{[4
,5
]}

Ardisia, Carmela ^{[1
,2
]}

Dallapiccola, Bruno ^{[6
]}

Donti, Emilio ^{[1
,2
]}

机构：

[1] Univ Perugia, Sez Genet Med, I-06123 Perugia, Italy

[2] Azienda Osped Perugia, Sez Genet Med, I-06123 Perugia, Italy

[3] Osped Casa Sollievo Sofferenza, IRCCS, San Giovanni Rotondo, Italy

[4] Univ Perugia, Sez Biol Cellulare & Mol, I-06123 Perugia, Italy

[5] Azienda Osped Perugia, Sez Biol Cellulare & Mol, I-06123 Perugia, Italy

[6] Bambino Gesu Pediat Hosp, IRCCS, Rome, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 10期

关键词：

2p16.1; microdeletion; review; SNP-array; intellectual disability; autism; optic nerve hypoplasia; FANCL; VRK2; RECOGNIZED MICRODELETION SYNDROME; IDIOPATHIC MENTAL-RETARDATION; MULTIPLE CONGENITAL-ANOMALIES; ARRAY-CGH; DEVELOPMENTAL DELAY; DYSMORPHIC FEATURES; PATIENT; DUPLICATIONS; REGION;

D O I：

10.1002/ajmg.a.33875

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 9-year-old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1) t(1;7)(q23q32.1)]; and a 2p16.1 deletion, spanning about 3.5 Mb of genomic DNA, shown by SNP-array analysis [arr 2p16.1 (56,706,666-60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient were similar to those reported in five published cases, suggesting that this genomic region is prone to recombination and its hemizygosity results in a distinct although variable spectrum of clinical manifestations. (C) 2011 Wiley-Liss, Inc.

引用

页码：2473 / 2478

页数：6

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