Live birth following double-factor pre-implantation genetic diagnosis for both reciprocal translocation and alpha-thalassaemia

We report a live birth from a couple with two genetic diseases, namely: reciprocal translocation carrier and alpha-thalassaemia trait, following pre-implantation genetic diagnostic tests. This is the first case in Hong Kong in which the technique of using one blastomere biopsy for two diseases was e...

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Veröffentlicht in:	Hong Kong medical journal = Xianggang yi xue za zhi 2014-06, Vol.20 (3), p.251-254
Hauptverfasser:	Lee, Vivian C Y, Chow, Judy F C, Lau, Estella Y L, Yeung, William S B, Ng, Ernest H Y
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult alpha-Thalassemia - diagnosis alpha-Thalassemia - genetics Biopsy Blood diseases Case reports Embryos Female Humans In Situ Hybridization, Fluorescence Live Birth Miscarriage Ovaries Polymerase chain reaction Pregnancy Preimplantation Diagnosis - methods Protocol Translocation, Genetic
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Beschreibung
Zusammenfassung:	We report a live birth from a couple with two genetic diseases, namely: reciprocal translocation carrier and alpha-thalassaemia trait, following pre-implantation genetic diagnostic tests. This is the first case in Hong Kong in which the technique of using one blastomere biopsy for two diseases was established, using array comparative genomic hybridisation and polymerase chain reaction.
ISSN:	1024-2708 2226-8707
DOI:	10.12809/hkmj134087