INTERSTITIAL DELETION OF CHROMOSOME-16Q - 16Q22 IS CRITICAL FOR 16Q-SYNDROME
INTERSTITIAL DELETION OF CHROMOSOME-16Q - 16Q22 IS CRITICAL FOR 16Q-SYNDROME
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DOI：
10.1002/ajmg.1320430311
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发表时间：
1992-06-01
期刊：
影响因子：
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通讯作者：
KAMADA, M
中科院分区：
文献类型：
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作者：
FUJIWARA, M;YOSHIMOTO, T;KAMADA, M
16q 的部分缺失很少见；据我们所知，仅公布了 12 个案例。弗林斯等人。 [Hum Genet 38:343-346,1977]描述了第一个病例并提出了一个新的临床实体。我们的患者是一名女孩，有许多 16q 综合征中常见的轻微异常现象。还观察到由于呕吐和腹泻而严重发育不良。高分辨率显带方法显示患者染色体组成为46,XX,del(16)(q22.1,22.3)。这表明 16q22 对于该综合征至关重要。
Partial deletion of 16q is rare; to our knowledge only 12 cases have been published. Fryns et al. [Hum Genet 38:343-346,1977] described the first of these cases and proposed a new clinical entity. Our patient was a girl and had many minor anomalies of the kind often observed in 16q- syndrome. Severe failure to thrive due to emesis and diarrhea were also observed. High resolution banding methods showed that the chromosome constitution of the patient was 46,XX,del(16)(q22.1,22.3). This suggests that 16q22 is critical for the syndrome.