Prenatal diagnosis of der(11)t(11;18)(q24;q21.3)Due to Paternal Balanced translocation and Both Parents are Carriers of α-Thalassemia-1-A Case Report

一對夫婦因皆為α－海洋性貧血－1帶因者，於懷孕19週施行羊膜穿剌檢查，分子遺傳學診斷為正常α－globin基因，額外要求染色體分析，證實此女胎兒為非平衡染色體轉位異常核型46，XX,der(11)t(11;18)(q24;q21.3)。懷孕第23週施行人工引產，胎兒體重450公克、胎盤100公克。外觀嚴重畸形有雙側兔唇及顎裂、眼距寬、鼻樑平、小頷、頸部囊性水腫、畸形手指及後腳跟突出，符合部分單染色體11q症又稱Jacobsen症候群，及部分三染色體18q症。此病例發生在父親為平衡染色體轉位帶因，而父母又同時為α－海洋性貧血－1帶因者（父為FIL型，母為SEA型），極為罕見特提出報告。

關鍵字

無資料

並列摘要

A couple were identified as α-thalassemia-l carriers (father: α-thal-l of Filipino type, mother: α-thal-l of SEA type). Amniocentesis was done at 19 weeks of gestation by a local obstetrician. Molecular study of amniotic fluid presented a non-thalassemia fetus, but the cytogenetic study revealed a karyotype of 46,XX,der(11)t(l1; 18)(q24;q21.3), resulting from a paternal balanced reciprocal translocation and unbalanced adjacent 1 segregation. The pregnancy was terminated at 23 weeks of gestation. The gross of fetus revealed bilateral cleft lip and palate, hypertelorism, flat nasal bridge, frontal bossing, micrognathia, low set ears, short neck with cystic hygroma, overlapping fingers, prominent heels, and limited hip abduction. The chromosome complement of the present case was partial monosomy for l1q24-qter and partial trisomy for 18q21.3-qter. This is the first prenatal diagnosis of unbalanced translocation with der(11 )t(11; 18)( q24;q21.3) pat due to paternal balanced translocation and both parents being carriers ofα-thalassemia-1.

並列關鍵字

partial monosomy 11q ； partial trisomy 18q ； prenatal diagnosis ； translocation ； α-thalassemia-1

國際替代計量

Prenatal diagnosis of der(11)t(11;18)(q24;q21.3)Due to Paternal Balanced translocation and Both Parents are Carriers of α-Thalassemia-1-A Case Report

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