New chromosomal syndromes.
作者信息
Lewandowski R C, Yunis J J
出版信息
Am J Dis Child. 1975 Apr;129(4):515-29. doi: 10.1001/archpedi.1975.02120410075021.
Abstract
摘要
相似文献
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New chromosomal syndromes.新的染色体综合征
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Autosomal syndromes.常染色体综合征
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Probable pericentric inversion in chromosome no. 1 in a female child (46,XX,inv(Ip+q-).一名女童1号染色体可能存在臂间倒位（46,XX,inv(Ip+q-)）。
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[Partial trisomy 10 due to hereditary translocation t(1;10)(q44;q22)].[因遗传性易位t(1;10)(q44;q22)导致的10号染色体部分三体]
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[Skeletal malformations caused by chromosome aberrations. Clinical and radiological study].
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Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.人类中的相互易位。3:1减数分裂分离导致产生47条或45条染色体的后代。
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Autosomal chromosome aberrations in ophthalmology.眼科中的常染色体畸变。
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引用本文的文献
1
Serial duplication of 10 (q21 to q22) in a mentally retarded boy with congenital malformations.一名患有先天性畸形的智障男孩中10号染色体（q21至q22）的串联重复。
Hum Genet. 1981;57(2):224-5. doi: 10.1007/BF00282030.
2
Familial translocation leading to partial trisomy 13: report of three cases.导致13号染色体部分三体的家族性易位：三例报告
Indian J Pediatr. 1984 Jul-Aug;51(411):481-7. doi: 10.1007/BF02776437.
3
Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.13号染色体不同片段三体患者的表型-核型相关性
J Med Genet. 1986 Aug;23(4):310-5. doi: 10.1136/jmg.23.4.310.
4
The rib gap anomaly in partial or mosaic trisomy 8.部分或嵌合性8号染色体三体中的肋骨间隙异常。
Skeletal Radiol. 1988;17(4):251-4. doi: 10.1007/BF00401806.
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Partial trisomy D: a diagnostic and cytogenetic dilemma.D 部分三体：诊断与细胞遗传学难题。
J Med Genet. 1976 Dec;13(6):535-8. doi: 10.1136/jmg.13.6.535.
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Partial trisomy 4q due to familial 2/4 translocation.
Hum Genet. 1976 Jul 27;33(2):147-53. doi: 10.1007/BF00281888.
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Partial trisomy 7p associated with familial 7p;22q translocation.与家族性7号染色体短臂；22号染色体长臂易位相关的7号染色体短臂部分三体性
J Med Genet. 1977 Aug;14(4):258-61. doi: 10.1136/jmg.14.4.258.
8
Cri-Du-Chat syndrome in a child with a 46,XX,der(5),t(4;5)(q32;p14)pat Karyotype.
Hum Genet. 1977 Nov 2;39(1):109-12. doi: 10.1007/BF00273159.
9
The origin and behavior of two isodicentric bisatellited chromosomes.两条等臂双随体染色体的起源与行为
Am J Hum Genet. 1977 May;29(3):294-300.
10
Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16.一名活产婴儿的16号染色体短臂三体及部分和完全性16号染色体三体的综述
J Med Genet. 1978 Oct;15(5):375-81. doi: 10.1136/jmg.15.5.375.
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