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核型异常婴儿的染色体分析

Cry analysis of infants with karyotype abnormality.

作者信息

Michelsson K, Tuppurainen N, Aula P

出版信息

Neuropediatrics. 1980 Nov;11(4):365-76. doi: 10.1055/s-2008-1071403.

DOI:10.1055/s-2008-1071403
PMID:7207706
Abstract

Sound spectrography was used to analyze 135 pain cries from 14 infants with a karyotype abnormality. At the time of the cry recording the children were from one day to seven months old, except for one child who was 2 years 10 months at the second recording. The cries were compared with 30 pain cries from 15 healthy infants of corresponding age. The children with an abnormality of chromosome 4 or 5 had cries with a significantly higher fundamental frequency than the control infants. Additionally, the cry in the "Cri-du-Chat" syndrome had a flat, monotonous melody type. The cries of infants with 13- or 18-trisomy were hoarse, low-pitched, with the shift parts absent. The cries in karyotype abnormalities were also different from pain cries of infants with other disorders involving the central nervous system. This study suggests that cry analysis can provide a valuable indication of the presence of a chromosome anomaly.

摘要

使用声谱分析法对14名患有核型异常的婴儿的135声疼痛哭声进行了分析。在记录哭声时,这些孩子年龄从1天到7个月不等,但有1名儿童在第二次记录时为2岁10个月。将这些哭声与15名相应年龄的健康婴儿的30声疼痛哭声进行了比较。患有4号或5号染色体异常的儿童的哭声基频明显高于对照婴儿。此外,“猫叫综合征”患儿的哭声旋律类型平淡、单调。患有13 - 三体或18 - 三体的婴儿哭声嘶哑、音调低沉,且无转折部分。核型异常患儿的哭声也与患有其他涉及中枢神经系统疾病的婴儿的疼痛哭声不同。这项研究表明,哭声分析可为染色体异常的存在提供有价值的线索。

相似文献

1
Cry analysis of infants with karyotype abnormality.核型异常婴儿的染色体分析
Neuropediatrics. 1980 Nov;11(4):365-76. doi: 10.1055/s-2008-1071403.
2
Autosomal chromosome aberrations in ophthalmology.眼科中的常染色体畸变。
Int Ophthalmol Clin. 1968 Winter;8(4):839-910.
3
Autosomal syndromes.常染色体综合征
Pediatr Ann. 1978 Jun;7(6):94-5, 97-100, 102-7 passim.
4
[Cri-du-chat syndrome and two other deformed children in a family carrying a pericentric inversion or insertion of chromosome 5].[患有5号染色体臂间倒位或插入的一个家族中的猫叫综合征及另外两名畸形儿童]
J Genet Hum. 1985 Dec;33(5):371-80.
5
Cytogenetics and the pathologist.细胞遗传学与病理学家
Pathol Annu. 1975;10:93-144.
6
Developmental and other pathologic changes in syndromes caused by chromosome abnormalities.染色体异常所致综合征中的发育及其他病理变化。
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7
[Autosomal chromosome aberrations].[常染色体畸变]
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8
[Autosomal chromosome aberrations].[常染色体畸变]
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9
[The autosomal chromosome aberrations in ophthalmology].[眼科中的常染色体畸变]
J Genet Hum. 1966;15:Suppl:133-208.
10
Cri du chat-syndrome in combination with partial trisomy 9 p.猫叫综合征合并9号染色体短臂部分三体性
Padiatr Padol. 1986;21(1):61-7.