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Anita Sik Yau Kan

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Citations 73
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Recent Articles
1.
Hui P, Mok Y, Luk H, Au S, Lau E, Chung B, et al.
Prenat Diagn . 2023 Aug; 43(10):1366-1369. PMID: 37529930
Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were...
2.
Lai T, Au L, Lau Y, Lo H, Chan K, Cheung K, et al.
Healthcare (Basel) . 2022 Dec; 10(12). PMID: 36554045
Fetal structural congenital abnormalities (SCAs) complicate 2-3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when karyotyping and chromosomal microarray do not yield a diagnosis. This is...
3.
So P, Hui A, Ma T, Shu W, Hui A, Kong C, et al.
Genes (Basel) . 2022 Nov; 13(11). PMID: 36360323
With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong...
4.
Chau J, Yu M, Chui M, Yeung C, Kwok A, Zhuang X, et al.
NPJ Genom Med . 2022 Mar; 7(1):23. PMID: 35314707
Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population...
5.
Ng V, Lau T, Kan A, Chung B, Luk H, Ng W, et al.
Diagnostics (Basel) . 2021 Sep; 11(9). PMID: 34573918
Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens,...
6.
Shu W, Cheng S, Xue S, Chan L, Soong S, Kan A, et al.
Genes (Basel) . 2021 Apr; 12(3). PMID: 33807602
Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we...
7.
Yu M, Chau J, Au S, Lo H, Yeung K, Fung J, et al.
Front Genet . 2021 Feb; 11:620162. PMID: 33584815
Balanced chromosomal abnormalities (BCAs) are changes in the localization or orientation of a chromosomal segment without visible gain or loss of genetic material. BCAs occur at a frequency of 1...
8.
Fung A, Kan A, Chung P, Shek N, Chan I, Wong K
J Paediatr Child Health . 2021 Jan; 57(5):710-714. PMID: 33400340
Aim: This study reviewed the experience of a tertiary paediatric surgery and obstetric centre on prenatal counselling of congenital surgical anomalies and to explore the role of paediatric surgeons on...
9.
Lin S, Luk H, Lo I, Tam W, Chan K, Tse H, et al.
Clin Case Rep . 2020 Sep; 8(8):1369-1375. PMID: 32884756
Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in , or . We describe the prenatal diagnosis, molecular characterization, and clinical management of a long-lived patient...
10.
Tung J, Lai S, Au S, Yeung K, Kan A, Loong F, et al.
Int J Pediatr Endocrinol . 2020 Jul; 2020:13. PMID: 32670376
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with variable clinical phenotype and complex molecular aetiology. It is mainly caused by dysregulation of the chromosome 11p15 imprinted region, which results...