Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry

被引：14

作者：

Chen, Chih-Ping ^{[1
,2
,3
,4
,5
,6
,7
]}

Hwang, Kwui-Shuai ^{[8
]}

Su, Her-Young ^{[8
]}

Lin, Shuan-Pei ^{[2
,3
,9
,10
]}

Su, Yi-Ning ^{[11
]}

Chern, Schu-Rern ^{[2
]}

Su, Jun-Wei ^{[1
,12
]}

Chen, Yu-Ting ^{[2
]}

Chen, Wen-Lin ^{[1
]}

Wang, Wayseen ^{[2
,13
]}

机构：

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

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

[3] Mackay Med Coll, Dept Med, New Taipei City, Taiwan

[4] Asia Univ, Dept Biotechnol, Taichung, Taiwan

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

[6] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan

[7] Natl Yang Ming Univ, Sch Med, Dept Obstet & Gynecol, Taipei 112, Taiwan

[8] Triserv Gen Hosp, Natl Def Med Ctr, Dept Obstet & Gynecol, Taipei, Taiwan

[9] Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan

[10] Mackay Med Nursing & Management Coll, Taipei, Taiwan

[11] Taipei Med Univ, Sch Med, Dept Obstet & Gynecol, Coll Med, Taipei, Taiwan

[12] China Med Univ Hosp, Dept Obstet & Gynecol, Taichung, Taiwan

[13] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan

来源：

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY | 2013年 / 52卷 / 01期

关键词：

14q31.3 -> q32.12; duplication; 14q; interstitial duplication; maternal serum biochemistry; prenatal diagnosis; 14Q32.2 IMPRINTED REGION; TANDEM DUPLICATION; UNIPARENTAL DISOMY; DISTAL; 14Q; TRISOMY; DELINEATION; MOSAICISM;

D O I：

10.1016/j.tjog.2012.08.002

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3 -> q32.12) in a pregnancy associated with abnormal maternal serum biochemistry. Case Report: A 19-year-old woman underwent amniocentesis in the second trimester because of abnormal maternal serum biochemistry. Her husband was 33 years old. At 16 weeks of gestation, the levels of a-fetoprotein, unconjugated estriol, total beta-human chorionic gonadotropin, and inhibin A were 0.8 multiples of median (MoM), 0.84 MoM, 3.06 MoM, and 1.14 MoM, respectively, consistent with a positive trisomy 21 risk of 1/269. Results of an amniocentesis revealed a small de novo interstitial duplication of 14q encompassing 14q31-q32.1. An array comparative genomic hybridization analysis detected a 6.6-Mb duplication at chromosome 14q31.3-q32.12. Results of a fluorescence in situ hybridization analysis showed a direct duplication of interstitial 14q. The karyotype was 46,XY,dup(14) (q31.3q32.12). Level II ultrasound was unremarkable. The parents decided to continue the pregnancy. A 3805-g healthy male baby was delivered at 39 weeks of gestation. When examined at 6 months of age, the neonate was normal in growth and psychomotor development with no apparent phenotypic abnormalities, although long-term follow-ups are required. Conclusion: Abnormal maternal serum biochemistry in the second trimester may be a distinctive prenatal feature in pregnancy associated with fetal chromosome 14q duplication. Copyright 2013, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved.

引用

页码：125 / 128

页数：4

共 22 条

[21] DISTAL-14Q TRISOMY SYNDROME IN 2 SIBLINGS - FURTHER DELINEATION OF ITS PHENOTYPE [J].

WAKITA, Y ;

NARAHARA, K ;

KIKKAWA, K ;

NAMBA, H ;

HIRAMOTO, K ;

EGUCHI, K ;

MATSUBARA, T ;

KIMOTO, H .

JAPANESE JOURNAL OF HUMAN GENETICS, 1988, 33 (04) :469-475

[22]

WEINSTEIN MR, 1977, AM J HUM GENET, V29, pA112

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