第九對環狀染色體症之一病例報告

Ring 9 Chromosome-Report of a Case

謝凱生(Kai-Sheng Hsieh) ； 黃碧桃(Be-Tau Hwang) ； 孟春昌(C. C. Laura Meng) ； 王昇(Sheng Wang) ； 蕭遺生(I-Sheng Shiao)

《Acta Paediatrica Sinica》 21卷4期 (1980/12) Pp. 282-286

摘要

本文報告一例罕見的第九對環狀染色體症。該病例是一新生兒，其外型的明顯異常包括軀幹較小，全身被覆細毛、腭裂、朝天鼻、兩耳低位、先天性心臟病，左側腹股疝氣、手指及足趾細長等。該病例的細胞遺傳學檢查證實第九對染色體呈環狀。

並列摘要

Ring chromosome is a rare entity of the chromosome abnormality. The mechanism of the ring formation is thought to be due to breakage, deletion and re-union of the chromosome during gametogenesis. With loss of variable amount of the genetic material, the phenotypes also vary. However, generally the clinical features are similar to the syndrome of deletion of the short arm of chromosome 9.
A newborn baby with ring 9 chromosome was reported. The cytogenetic study proved the diagnosis of ring 9 chromosome. The predominant clinical features consisted of generalized fine soft hair, prominent epicanthal fold, low set ears, anteverted nostrils, congenital cardiac defects (ASD, VSD, PDA and Peripheral PS), left inguinal hernia, hypospadias, long fingers and toes.
The common features of the present case, ring 9 chromo-some and syndrome of deletion of the short arm of chromosome 9 were compared.

並列關鍵字

ring chromosome ； deletion of short arm of chromosome 9 ； karyotype ； phenotype