INTERSTITIAL DELETION OF CHROMOSOME-16Q - 16Q22 IS CRITICAL FOR 16Q-SYNDROME

被引：20

作者：

FUJIWARA, M ^{[1
]}

YOSHIMOTO, T ^{[1
]}

MORITA, Y ^{[1
]}

KAMADA, M ^{[1
]}

机构：

[1] SAPPORO AYUMINOSONO TRAINING SCH & HOSP,DEPT PEDIAT,SAPPORO,HOKKAIDO,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 03期

关键词：

CHROMOSOME ABNORMALITIES; HUMAN CHROMOSOME-16; 16Q DELETION; INTERSTITIAL DELETION; MALFORMATION;

D O I：

10.1002/ajmg.1320430311

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：561 / 564

页数：4

共 11 条

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