Genotype-Phenotype Correlation of 16p13.3 Terminal Duplication and 22q13.33 Deletion: Natural History of a Patient and Review of the Literature

被引：8

作者：

Fontes, Marshall I. B. ^{[1
,2
]}

Santos, Ana P. ^{[1
]}

Molck, Miriam C. ^{[1
]}

Simioni, Milena ^{[1
]}

Nascimento, Diogo L. L. ^{[2
]}

Andrade, Ana K. M. ^{[3
]}

Rosenberg, Carla ^{[4
]}

Krepischi, Ana C. V. ^{[4
]}

Appenzeller, Simone ^{[5
]}

Monlleo, Isabella L. ^{[3
]}

Gil-da-Silva-Lopes, Vera Lucia ^{[1
]}

机构：

[1] Univ Estadual Campinas, Fac Med Sci, Dept Med Genet, BR-13083887 Campinas, SP, Brazil

[2] State Univ Hlth Sci Alagoas, Med Genet Sect, Maceio, Alagoas, Brazil

[3] Fed Univ Alagoas UFAL, Univ Hosp, Fac Med, Clin Genet Serv, Maceio, Alagoas, Brazil

[4] Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Sao Paulo, SP, Brazil

[5] Univ Estadual Campinas, Fac Med Sci, Dept Clin Med, BR-13083887 Campinas, SP, Brazil

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2016年 / 170卷 / 03期

基金：

巴西圣保罗研究基金会;

关键词：

16p13.3; duplication; 22q13.33; deletion; array-GH; congenital defects; genotype-phenotype correlation; microarray; translocation; PHELAN-MCDERMID SYNDROME; RUBINSTEIN-TAYBI REGION; RECOGNIZABLE SYNDROME; CHROMOSOME; 16P13.3; MICRODUPLICATION; TRISOMY; 16P;

D O I：

10.1002/ajmg.a.37494

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This article reports a patient with a de novo similar to 9.32 Mb duplication at 16p13.3 and a similar to 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication syndrome. In addition, the patient presents a portal cavernoma, an alteration rarely reported in this condition. Renal agenesis was detected as additional developmental defect. After genomic array and FISH analysis, the karyotype was 46, XX, ins(22; 16)(q13; p13.2p13.3). ish ins(22; 16)(RP11-35P16_,RP11-27M24_). arr16p13.2p13.3 (85,880-9,413,353) x3 dn arr22q13.33 (51,140,789-51,197,838) x 1 dn. The authors provide a comprehensive review of the literature. This approach shed light on the genotype-phenotype correlation. (c) 2015 Wiley Periodicals, Inc.

引用

页码：766 / 772

页数：7

共 6 条

[1] Interstitial 16p13.3 microduplication: Case report and critical review of genotype-phenotype correlation
Mattina, Teresa
Palumbo, Orazio
Stallone, Raffaella
Pulvirenti, Rita Maria
Di Dio, Laura
Pavone, Piero
Carella, Massimo
Pavone, Lorenzo
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, 55 (12) : 747 - 752
[2] A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome
Socha, Magdalena
Szoszkiewicz, Anna
Simon, Dorota
Jamsheer, Aleksander
JOURNAL OF APPLIED GENETICS, 2023, 64 (01) : 125 - 134
[3] Genotype-Phenotype Analysis of 8q24.3 Duplication and 21q22.3 Deletion in a Chinese Patient and Literature Review
Sun, Huihui
Wan, Naijun
PUBLIC HEALTH GENOMICS, 2021, 24 (5-6) : 218 - 228
[4] De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype-Phenotype Correlation
Atli, Emine Ikbal
Gurkan, Hakan
Atli, Engin
Vatansever, Ulfet
Acunas, Betul
Mail, Cisem
JOURNAL OF PEDIATRIC GENETICS, 2020, 9 (01) : 32 - 39
[5] Complex rearrangement involving 9p deletion and duplication in a syndromic patient: Genotype/phenotype correlation and review of the literature
Recalcati, Maria Paola
Bellini, Melissa
Norsa, Lorenzo
Ballarati, Lucia
Caselli, Rossella
Russo, Silvia
Larizza, Lidia
Giardino, Daniela
GENE, 2012, 502 (01) : 40 - 45
[6] A Boy With Partial dup(18q)/del(18p) Due to a Maternal Pericentric Inversion: Genotype-Phenotype Correlation and Risk of Recombinant Chromosomes Based on Systematic Review of the Literature
Lustosa-Mendes, Elaine
dos Santos, Ana Paula
Viguetti-Campos, Nilma Lucia
Vieira, Tarsis Paiva
Gil-da-Silva-Lopes, Vera Lucia
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (01) : 143 - 150

← 1 →