Prenatally detected six duplications at Xp22.33-p11.22: a case report

Prenatally detected six duplications at Xp22.33-p11.22: a case report

Abstract Background The discrepancy between the results of cytogenetics and the results of chromosome microarray analysis (CMA) has often led to confusion over genetic counselling for prenatal diagnosis. Case presentation The prenatal ultrasound results of a congenital heart defect (CHD) foetus disp...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Xue Zhang, Jian Li, Lan Zhang, Hongli Liu, Hong Yi, Mingxing Liang, Jianyu Luo, Junnan Li, Yanling Dong
स्वरूप: लेख
भाषा:English
प्रकाशित: BMC 2023-04-01
श्रृंखला:BMC Pregnancy and Childbirth
विषय:
Congenital heart defects
Copy number variations
Chromosome microarray analysis
Multiple ligation-dependent probe amplification
Single nucleotide polymorphisms
ऑनलाइन पहुंच:https://doi.org/10.1186/s12884-023-05627-0

इंटरनेट

https://doi.org/10.1186/s12884-023-05627-0

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