Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly

被引：0

作者：

Chen, Chih-Ping ^{[1
,2
,3
,4
,5
,6
,9
]}

Huang, Jian-Pei ^{[1
,7
]}

Chen, Yi-Yung ^{[1
]}

Chen, Shin -Wen ^{[1
]}

Chern, Schu-Rern ^{[2
]}

Wu, Peih-Shan ^{[8
]}

Wu, Fang-Tzu ^{[1
]}

Pan, Yen-Ting ^{[1
]}

Chen, Wen -Lin ^{[1
]}

Pan, Chen -Wen ^{[1
]}

Wang, Wayseen ^{[2
]}

机构：

[1] MacKay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan

[2] MacKay Mem Hosp, Dept Med Res, Taipei, Taiwan

[3] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan

[4] Natl Yang Ming Chiao Tung Univ, Inst Clin & Community Hlth Nursing, Taipei, Taiwan

[5] Natl Yang Ming Chiao Tung Univ, Sch Med, Dept Obstet & Gynecol, Taipei, Taiwan

[6] Asia Univ, Coll Med & Hlth Sci, Dept Med Lab Sci & Biotechnol, Taichung, Taiwan

[7] MacKay Jr Coll Med, Nursing & Management, Taipei, Taiwan

[8] Gene Biodesign Co Ltd, Taipei, Taiwan

[9] MacKay Hosp, Dept Obstet & Gynecol, Sect 2,92 Chung Shan North Rd, Taipei 10449, Taiwan

来源：

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY | 2023年 / 62卷 / 03期

关键词：

4q34; 3q35; 2; duplication; Congenital heart defects; Short long bones; Xp22; 33; deletion; DUPLICATION;

D O I：

10.1016/j.tjog.2023.03.007

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: We present molecular cytogenetic characterization of del(X) (p22.33)mat and de novo dup(4) (q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly.Case report: A 36-year-old, gravida 3, para 1, woman with short stature (152 cm) underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,Y,del(X)(p22.33)mat, dup(4)(q34.3q35.2). The mother had a karyotype of 46,X,del(X)(p22.33). Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed arr Xp22.33 x 0, 4q34.3q35.2 x 3. Prenatal ultrasound at 23 weeks of gestation revealed multiple anomalies of flat nasal bridge, ventriculomegaly, atrioventricular septal defect (AVSD) and clinodactyly. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. Cytogenetic analysis of the umbilical cord revealed 46,Y,del(X)(p22.33)mat, dup(4)(q34.3q35.2)dn. aCGH analysis on the DNA extracted from the umbilical cord revealed arr [GRCh37 (hg19)] 4q34.3q35.2 (181,149,823-188,191,938) x 3.0, arr Xp22.33 (470,485-2,985,006) x 0 with a 7.042-Mb duplication of 4q34.3-q35.2 and a 2.514-Mb deletion of Xp22.33.Conclusion: A male fetus with del(X)(p22.33) and dup(4)(q34.3q35.2) may present congenital heart defects and short long bones on prenatal ultrasound.(c) 2023 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

引用

页码：453 / 456

页数：4