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+12p综合征。病例报告与综述。

Syndrome +12p. Case report and review.

作者信息

Tenconi R, Piovan E, Preto A, Magnabosco R, Baccichetti C

出版信息

Hum Genet. 1977 Nov 2;39(1):97-101. doi: 10.1007/BF00273157.

DOI:10.1007/BF00273157
PMID:924448
Abstract

Familial 12/15 translocation with a child trisomic for the short arm of chromosome 12 (segment of 12.1 leads to pter) is reported. The clinical picture of the child is strikingly similar to previous reports of 12p trisomy. The main symptoms of 12p syndrome are defined.

摘要

报道了一例家族性12/15易位,患儿12号染色体短臂三体(12.1节段至染色体短臂末端)。该患儿的临床表现与先前报道的12号染色体短臂三体极为相似。明确了12号染色体短臂综合征的主要症状。

相似文献

1
Syndrome +12p. Case report and review.+12p综合征。病例报告与综述。
Hum Genet. 1977 Nov 2;39(1):97-101. doi: 10.1007/BF00273157.
2
12P trisomy: a syndrome?12号染色体三体:一种综合征?
Ann Genet. 1976 Dec;19(4):261-3.
3
[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].[一名患有12号染色体三体的男孩因母源易位t(12;14)(q12;p11)的错误分离导致乳酸脱氢酶B活性增加]
Ann Genet. 1975 Jun;18(2):81-7.
4
[Partial 7q trisomy].[7号染色体长臂部分三体]
Ann Genet. 1975 Mar;18(1):67-70.
5
Trisomy 9p in a patient with a de novo 9/15 translocation.一名新发9/15易位患者的9号染色体短臂三体
Clin Genet. 1975 Apr;7(4):317-24. doi: 10.1111/j.1399-0004.1975.tb00335.x.
6
A case of trisomy 9p in a family with translocation 9/15.一个患有9号染色体短臂三体且伴有9/15易位的家族病例。
Humangenetik. 1975;27(4):353-8. doi: 10.1007/BF00278432.
7
A case of de novo trisomy 12p syndrome.一例新发12号染色体短臂三体综合征病例。
Ann Genet. 1985;28(4):235-8.
8
Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations.两例因rcpt(12;21)(p11;p11)导致的12号染色体短臂三体综合征病例在三代人中遗传。
Hum Genet. 1979 Apr 5;47(3):253-60. doi: 10.1007/BF00321017.
9
"Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.
Hum Genet. 1979 Feb 15;46(3):271-8. doi: 10.1007/BF00273310.
10
The 12p trisomy syndrome.12号染色体三体综合征
Ann Genet. 1975 Jun;18(2):89-94.

引用本文的文献

1
Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12.涉及12号染色体的易位。I. 一名反复流产女性中12号与21号染色体易位的报告,以及对涉及12号染色体易位的断点和确定方式的研究。
Hum Genet. 1981;58(2):144-8. doi: 10.1007/BF00278699.
2
New chromosomal dysmorphic syndromes. 4. Trisomy 12p.新的染色体畸变综合征。4. 12号染色体短臂三体综合征
Eur J Pediatr. 1981 Jul;136(3):249-62. doi: 10.1007/BF00442992.
3
Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.

本文引用的文献

1
Trisomy 12p due to familial t(12p-,6q plus) translocation.因家族性t(12p-,6q+)易位导致的12号染色体短臂三体
Humangenetik. 1974;24(3):247-52.
2
[Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].[用5-溴脱氧尿苷处理后人类染色体的吖啶橙染色]
C R Acad Hebd Seances Acad Sci D. 1973 Jun 13;276(24):3179-81.
3
Identification of partial 12 trisomy by quinacrine fluorescence.用喹吖因荧光法鉴定部分12三体
Hum Genet. 1978 Nov 24;45(1):63-9. doi: 10.1007/BF00277574.
4
Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations.两例因rcpt(12;21)(p11;p11)导致的12号染色体短臂三体综合征病例在三代人中遗传。
Hum Genet. 1979 Apr 5;47(3):253-60. doi: 10.1007/BF00321017.
5
Trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy.12号染色体短臂三体综合征:一名智力发育迟缓男孩新发嵌合型12号染色体短臂三体。
Hum Genet. 1979 Jan 25;46(2):135-40. doi: 10.1007/BF00291913.
J Pediatr. 1973 Feb;82(2):269-72. doi: 10.1016/s0022-3476(73)80165-9.
4
[A new technic of analysis of the human karyotype].[一种人类核型分析的新技术]
C R Acad Hebd Seances Acad Sci D. 1971 May 17;272(20):2638-40.
5
12P trisomy: a syndrome?12号染色体三体:一种综合征?
Ann Genet. 1976 Dec;19(4):261-3.
6
[Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12].[12号染色体短臂远端片段上3-磷酸甘油醛脱氢酶基因的定位]
Ann Genet. 1976 Jun;19(2):140-2.
7
The 12p trisomy syndrome.12号染色体三体综合征
Ann Genet. 1975 Jun;18(2):89-94.
8
[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].[一名患有12号染色体三体的男孩因母源易位t(12;14)(q12;p11)的错误分离导致乳酸脱氢酶B活性增加]
Ann Genet. 1975 Jun;18(2):81-7.
9
12pter to 12p12.2: possible assignment of human triose phosphate isomerase.
Hum Genet. 1977 Apr 15;36(2):235-7. doi: 10.1007/BF00273263.