Severe terminal transverse limb reduction defects in homozygous Southeast-Asian alpha-thalassaemia-1.
A rare occurrence of a homozygous a-thalassaemia fetus with severe terminal transverse limb reduction defects involving all limbs is reported. When prenatal testing, either by DNA analysis or haemoglobin electrophoresis, indicating a fetus with homozygous alpha-thalassaemia, a complete sonographic survey of fetal limbs is mandatory, and terminal transverse limb reduction defects should be included in genetic counselling prior to in utero fetal therapy.
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D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D001210:Asia, Southeastern; D044466:Asian People; D005260:Female; D005530:Foot Deformities / Q000235:genetics*; D005817:Genetic Counseling; D006226:Hand Deformities / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D013624:Taiwan; D016216:Ultrasonography, Prenatal; D017085:alpha-Thalassemia / Q000235:genetics*