Cri-Du-Chat syndrome in a child with a 46,XX,der(5),t(4;5)(q32;p14)pat Karyotype.

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作者信息

McDermott A, Poulding R, Creery D

出版信息

Hum Genet. 1977 Nov 2;39(1):109-12. doi: 10.1007/BF00273159.

DOI:10.1007/BF00273159

PMID:924437

Abstract

摘要

相似文献

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.

A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child.一名患有猫叫综合征的45,XX,-5,-14,+t(5q;14q)母系染色体异常患儿。

Ann Genet. 1978 Mar;21(1):56-9.

[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.

A case of the "cri du chat" syndrome with an unusual karyotype in the father.一例父亲核型异常的“猫叫综合征”病例。

Sov Genet. 1974 Nov 15;9(1):129-31.

Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin.一名患有5/15易位和间质性着丝粒异染色质的儿童的猫叫综合征。

Clin Genet. 1978 Dec;14(6):345-50. doi: 10.1111/j.1399-0004.1978.tb02100.x.

[Cri-du-chat syndrome and trisomy 8p due to a paternal translocation t(5;8)(p1409;p12)].

Ann Genet. 1984;27(2):118-21.

Cri-du-chat and trisomy 13 syndromes in an infant with an unbalanced chromosomal translocation.一名患有染色体不平衡易位的婴儿的猫叫综合征和13三体综合征。

Birth Defects Orig Artic Ser. 1975;11(5):317-9.

Translocation Y/5 resulting in Cri du Chat syndrome.

Clin Genet. 1977 Dec;12(6):319-22. doi: 10.1111/j.1399-0004.1977.tb00949.x.

Wolf-Hirschhorn and Cri du Chat syndromes resulting from familial translocations: 3 further examples of the Bp monosomy epistatic effect.

Genet Couns. 1990;1(2):179-84.

Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.猫叫综合征中的Y常染色体易位和复杂染色体重排。

J Med Genet. 1978 Apr;15(2):154-7. doi: 10.1136/jmg.15.2.154.

引用本文的文献

Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.相互易位：一种通过粗线期图绘制预测不平衡分离模式的方法。

Hum Genet. 1980;55(2):209-22. doi: 10.1007/BF00291769.

Reciprocal translocation t(5;6)(p13;q27) through three generations: case report of cri du chat syndrome.三代遗传的相互易位t(5;6)(p13;q27)：猫叫综合征病例报告

Hum Genet. 1980 Feb;53(2):145-7. doi: 10.1007/BF00273485.

Endocrine abnormalities in a patient with partial trisomy 4q.一名4q部分三体综合征患者的内分泌异常

J Med Genet. 1984 Aug;21(4):303-7. doi: 10.1136/jmg.21.4.303.

Partial trisomy 7q and probable partial monosomy of 5p in the son of a mother with a reciprocal translocation between 5p and 7q.一位母亲发生5号染色体短臂与7号染色体长臂相互易位，其子出现7号染色体长臂部分三体及可能的5号染色体短臂部分单体。

Hum Genet. 1979;53(1):121-4. doi: 10.1007/BF00289464.

Partial trisomy 4q: two cases resulting from a familial translocation t(4;18)(q27;p11).

Hum Genet. 1979 Nov 1;52(1):85-90. doi: 10.1007/BF00284601.

Partial trisomy 4q: two cases with a familial translocation t(4;18)(q27;q23).

Hum Genet. 1979 Apr 5;47(3):245-51. doi: 10.1007/BF00321016.

Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.易导致相邻的2:1和3:1分离的因素：对161例人类相互易位的研究

J Med Genet. 1979 Dec;16(6):467-78. doi: 10.1136/jmg.16.6.467.

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.

本文引用的文献

New chromosomal syndromes.新的染色体综合征

Am J Dis Child. 1975 Apr;129(4):515-29. doi: 10.1001/archpedi.1975.02120410075021.

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