一名45，XY，5 - 15 -，t(5q15q)的猫叫综合征患儿。 - Suppr

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超能文献

A 45,XY,5-15-,t(5q15q) cri-du-chat child.

作者信息

Jackson L, Barr M

出版信息

J Med Genet. 1970 Jun;7(2):161-3. doi: 10.1136/jmg.7.2.161.

DOI:10.1136/jmg.7.2.161

PMID:5519604

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468817/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c75/1468817/0156620d9494/jmedgene00369-0059-a.jpg

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A 45,XY,5-15-,t(5q15q) cri-du-chat child.一名45，XY，5 - 15 -，t(5q15q)的猫叫综合征患儿。

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A 45,XX,5-,13-,dic+ karyotype in a case of cri-du-chat syndrome.一名猫叫综合征患者的核型为45,XX,5-,13-,dic+

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Cri du chat syndrome [46, XY, 5p-] with balanced B/F translocation in father and grandfather: a case report.父亲和祖父存在平衡的B/F易位的猫叫综合征[46, XY, 5p-]：一例报告

Birth Defects Orig Artic Ser. 1974;10(10):49-53.

[Crying cat syndrome with chromosome mosaicism 46,XY-46,XY,5p-].

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[Rare developmental anomalies in children: 1) the cri du chat syndrome, karyotype: 46, XY, DEL (5) (P31); 2) the mixed type of syndrome with signs of Patau's syndrome and the cri du chat syndrome, karyotype: 46, XY, DER (5) T (5, 13) (P14, Q14) MAT].儿童罕见发育异常：1）猫叫综合征，核型：46，XY，del(5)(p31)；2）伴有帕陶综合征和猫叫综合征体征的混合型综合征，核型：46，XY，der(5)t(5;13)(p14;q14)mat

Pediatriia. 1980 Mar(3):74-7.

[Familial segregation of a t(5p-;13q+). Complementary analysis from specimens preserved in liquid nitrogen].

Ann Genet. 1972 Mar;15(1):57-60.

"Cri du chat" syndrome with maternal insertional translocation.伴有母源性插入性易位的猫叫综合征

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Subglottic pseudotumor, laryngeal dysplasia, and chondrodysplasia calcificans congenita with a t(D;B) chromosomal translocation.

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A pericentric inversion, 5 p-q+, and additional complex rearrangements in a case of cri-du-chat syndrome.一例猫叫综合征患者中的臂间倒位、5p-q+及其他复杂重排

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[Cytogenetic study of the deletion of group B by means of radioautography].

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引用本文的文献

Transmission of the cri-du-chat syndrome from a maternal balanced translocation carrier, t(5p-;11q+).

Humangenetik. 1973 Dec 20;20(4):361-5. doi: 10.1007/BF00273340.

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.猫叫综合征：流行病学、细胞遗传学及临床特征

Hum Genet. 1978 Nov 16;44(3):227-75. doi: 10.1007/BF00394291.

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。

J Med Genet. 1975 Mar;12(1):29-43. doi: 10.1136/jmg.12.1.29.

本文引用的文献

Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families.易位杂合性：三个家庭中五例猫叫综合征及两例5号染色体重复病例的病因。

Am J Hum Genet. 1967 Jul;19(4):586-603.

[Crying cat syndrome with translocation 5/D 2].[伴有5号/2号染色体易位的猫叫综合征]

Humangenetik. 1966;2(1):63-77. doi: 10.1007/BF00285911.

Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.从小量全血接种物培养白细胞，并通过用低渗氯化钾处理制备中期染色体。

Stain Technol. 1965 Nov;40(6):333-8. doi: 10.3109/10520296509116440.

Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival.13三体综合征（D1型）：关于父母年龄、性别比例及生存情况的研究

J Pediatr. 1968 Aug;73(2):222-8. doi: 10.1016/s0022-3476(68)80072-1.

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