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21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes.

作者信息

Serra A, Singh-Kahlon D P

出版信息

Hum Genet. 1976 Jul 7;33(1):47-53. doi: 10.1007/BF00447285.

DOI:10.1007/BF00447285
PMID:133078
Abstract

An 11-year-old girl with severe psychomotor retardation and other congenital anomalies characteristic of Down's and G deletion I syndromes, was confirmed to be a chromosome 21 ring carrier by R- and G-banding techniques. The dynamics of the ring evolution resulting in a population of complex unstable rings, as in our index case, and the effects of the consequent ring mosaicism are briefly discussed.

摘要

相似文献

1
21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes.
Hum Genet. 1976 Jul 7;33(1):47-53. doi: 10.1007/BF00447285.
2
Maternally transmitted extra ring (21) chromosome in a boy with Down's syndrome.一名患有唐氏综合征男孩的母系遗传额外环状(21)染色体。
Hum Genet. 1982;60(1):78-9. doi: 10.1007/BF00281270.
3
t(21q21q)/r[t(21q21q)] mosaic in two unrelated patients with mild stigmata of Down's syndrome.
Ann Genet. 1982;25(1):56-8.
4
[Down's syndrome with Turner mosaicism/Y chromosome in a ring: 46,X+21/47X(r)Y,+21].唐氏综合征合并特纳嵌合体/环状 Y 染色体:46,X+21/47X(r)Y,+21
An Esp Pediatr. 1987 Dec;27(6):479-80.
5
Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.唐氏综合征伴源自母体环状染色体 21 的重组串联重复。
J Med Genet. 1984 Aug;21(4):310-4. doi: 10.1136/jmg.21.4.310.
6
Down's syndrome and deletion of short arms of a G chromosome.唐氏综合征与G组染色体短臂缺失
J Med Genet. 1977 Apr;14(2):147-50. doi: 10.1136/jmg.14.2.147.
7
Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy.
Am J Med Genet. 1983 Nov;16(3):323-9. doi: 10.1002/ajmg.1320160305.
8
A case of r(21) with stigmata of atypical Down syndrome.一例伴有非典型唐氏综合征体征的r(21)病例。
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9
An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.一例罕见的嵌合型唐氏综合征病例,涉及两种不同的罗伯逊易位。
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10
[Report on a case of Down's syndrome with mosaicism. Trisomy 21-normal, clearly mongoloid phenotype and normal iliac index in a newborn infant].[一例嵌合型唐氏综合征病例报告。一名新生儿21三体-正常,具有明显的蒙古样表型且髂指数正常]
Minerva Pediatr. 1974 Jan 28;26(2):78-81.

引用本文的文献

1
Mimicking Hypoxic-Ischemic Encephalopathy in a Newborn with 21q Deletion Originating from Ring Chromosome 21.源于环状21号染色体的21q缺失新生儿模拟缺氧缺血性脑病。
Children (Basel). 2023 Aug 27;10(9):1461. doi: 10.3390/children10091461.
2
Prenatal detection of an unstable ring 21 chromosome.产前检测到一条不稳定的21号环状染色体。
Hum Genet. 1984;68(4):310-3. doi: 10.1007/BF00292590.
3
A case of r(21) with stigmata of atypical Down syndrome.一例伴有非典型唐氏综合征体征的r(21)病例。

本文引用的文献

1
A patient with 45,XX,Gminus-46,XX,Gr mosaicism.一名患有45,XX,G减46,XX,Gr嵌合体的患者。
J Med Genet. 1969 Jun;6(2):220-3. doi: 10.1136/jmg.6.2.220.
2
[A case with mosaicism of partial monosomy G- monosomy G in peripheral blood lymphocytes].[一例外周血淋巴细胞中部分G染色体单体性嵌合体病例]
Humangenetik. 1968;6(4):303-10.
3
The G deletion syndromes.G缺失综合征
Hum Genet. 1980;55(1):65-9. doi: 10.1007/BF00329128.
4
A ring chromosome 9 in an infant with malformations.
Hum Genet. 1979 Sep;50(3):231-5. doi: 10.1007/BF00399386.
J Pediatr. 1970 Oct;77(4):658-63. doi: 10.1016/s0022-3476(70)80209-8.
4
Simultaneous occurrence of ring "G" chromosome and group "B" pericentric inversion in the same individual: case report and review of the literature.同一患者同时出现环状“G”染色体和“B”组臂间倒位:病例报告及文献复习
Pediatrics. 1970 Jul;46(1):74-83.
5
[Familial mosaicism with G ring].[伴有G环的家族性嵌合体]
Humangenetik. 1969;7(4):275-86. doi: 10.1007/BF00283550.
6
[On the duplication of circular structures].[关于圆形结构的复制]
Ann Genet. 1968 Jun;11(2):71-7.
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Human ring chromosomes: a report of five cases.
Ann Genet. 1972 Dec;15(4):241-7.
8
[Ring G-chromosome. Report of two cases and review of literature].
Humangenetik. 1971;12(2):142-55. doi: 10.1007/BF00291470.
9
Anti-mongolism. Studies in an infant with a partial monosomy of the 21 chromosome.抗蒙古症。对一名患有21号染色体部分单体性的婴儿的研究。
Lancet. 1966 Feb 19;1(7434):394-7. doi: 10.1016/s0140-6736(66)91391-2.
10
A t(21q21q) ring chromosome.一条t(21q21q)环状染色体。
Hum Hered. 1974;24(3):253-8. doi: 10.1159/000152658.