人类常染色体单体性。一名4岁半智力发育迟缓女孩的G组（21 - 22号染色体）完全单体性。 - Suppr

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超能文献

Autosomal monosomy in man. Complete monosomy G (21-22) in a four-and-one-half-year-old mentally retarded girl.

作者信息

Al-Aish M S, De la Cruz F, Goldsmith L A, Volpe J, Mella G, Robinson J C

出版信息

N Engl J Med. 1967 Oct 12;277(15):777-84. doi: 10.1056/NEJM196710122771502.

DOI:10.1056/NEJM196710122771502

PMID:6046675

Abstract

摘要

相似文献

Autosomal monosomy in man. Complete monosomy G (21-22) in a four-and-one-half-year-old mentally retarded girl.人类常染色体单体性。一名4岁半智力发育迟缓女孩的G组（21 - 22号染色体）完全单体性。

N Engl J Med. 1967 Oct 12;277(15):777-84. doi: 10.1056/NEJM196710122771502.

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De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl.一名智力发育迟缓女孩新发46,XX,t(4;13)(q31;q14)。

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Structural aberrations of autosomes in a mentally retarded population.

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Chromosome studies in acute leukaemia. 3. Chromosome constitution of bone marrow cells in 30 cases.急性白血病的染色体研究。3. 30例骨髓细胞的染色体组成。

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Partial monosomy and partial trisomy for different segments of chromosome 13 in several individuals of the same family.同一家族的几个个体中13号染色体不同片段的部分单体性和部分三体性。

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[A single D chromosome in ring form in a 2-year-old girl with mental retardation].[一名患有智力障碍的2岁女童体内存在一条环状单D染色体]

Srp Arh Celok Lek. 1970 Mar;98(3):447-52.

引用本文的文献

Monosomy 22 with mosaicism.22号染色体单体伴嵌合体。

J Med Genet. 1981 Feb;18(1):71-3. doi: 10.1136/jmg.18.1.71.

Monosomy for a G autosome.一条G组常染色体单体性

Arch Dis Child. 1969 Feb;44(233):113-9. doi: 10.1136/adc.44.233.113.

[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.

An unusual chromosomal aberration in a case of Chediak-Higashi syndrome.

J Med Genet. 1970 Dec;7(4):417-21. doi: 10.1136/jmg.7.4.417.

Monosomy G: case report and review of the literature.G单体综合征：病例报告及文献综述

J Med Genet. 1971 Dec;8(4):496-500. doi: 10.1136/jmg.8.4.496.

Group G deletion syndromes.G组缺失综合征

J Med Genet. 1971 Sep;8(3):341-5. doi: 10.1136/jmg.8.3.341.

A child with a ring G chromosome (46,XX, Gr).一名患有环状G染色体的儿童（46,XX, Gr）。

J Med Genet. 1971 Jun;8(2):231-4. doi: 10.1136/jmg.8.2.231.

Cat-eye syndrome, a partial trisomy 22.猫眼综合征，一种22号染色体部分三体。

Humangenetik. 1972;15(2):150-62. doi: 10.1007/BF00295742.

Face of the child as an index of disease.

Indian J Pediatr. 1972 Mar;39(290):76-83. doi: 10.1007/BF02756587.

A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.一名45,XX,21三体患儿：对其核型进行细胞学和临床解读的尝试

J Med Genet. 1972 Mar;9(1):110-5. doi: 10.1136/jmg.9.1.110.

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