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

Author:

Chen Chih-Ping,Hwang Kwui-Shuai,Su Her-Young,Lin Shuan-Pei,Su Yi-Ning,Chern Schu-Rern,Su Jun-Wei,Chen Yu-Ting,Chen Wen-Lin,Wang Wayseen

Funder

National Science Council

Mackay Memorial Hospital, Taipei, Taiwan

Publisher

Elsevier BV

Subject

Obstetrics and Gynaecology

Reference22 articles.

1. Distal trisomy 14q due to tandem duplication (q24 leads to q32);Orye;Ann Genet,1983

2. Distal 14q trisomy;Turleau;Ann Genet,1983

3. Distal trisomy 14q;Mikelsaar;J Med Genet,1987

4. A paternally derived inverted duplication of distal 14q with a terminal 14q deletion;Chen;Am J Med Genet A,2005

5. A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay;Thiel;Eur J Med Genet,2008

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