部分三体综合征。II. 一次插入作为母亲和女儿患口面指综合征的病因 - Suppr

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Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter.

作者信息

PATAU K, THERMAN E, INHORN S L, SMITH D W, RUESS A L

出版信息

Chromosoma. 1961;12:573-84. doi: 10.1007/BF00328943.

DOI:10.1007/BF00328943

PMID:14484286

Abstract

摘要

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Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter.部分三体综合征。II. 一次插入作为母亲和女儿患口面指综合征的病因

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The syndrome of partial trisomy 14q.14q部分三体综合征

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Partial trisomy 9 : clinical and cytogenetic correlations.9号染色体部分三体：临床与细胞遗传学的相关性

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Trisomy 4p in a family with A t(4;15).一个患有t(4;15)的家族中的4号染色体短臂三体。

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Partial trisomy 14q-- and pseudoxanthoma elasticum.14号染色体长臂部分三体综合征与弹性假黄瘤

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Syndromology's message for craniofacial biology.综合征学对颅面生物学的启示。

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Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?两兄弟患有类似口面指综合征II型和VI型的综合征且垂体缺失：一种新型口面指综合征？

Am J Med Genet. 1995 May 22;57(1):22-6. doi: 10.1002/ajmg.1320570107.

Dup(1q)(q42-->qter) syndrome: case report and review of literature.dup(1q)(q42→qter)综合征：病例报告及文献复习

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Direct transmission of the 18q- syndrome from mother to daughter.18号染色体长臂缺失综合征从母亲直接遗传给女儿。

Genet Couns. 2006;17(2):185-9.

引用本文的文献

Autosomal Trisomies and Partial Trisomy Syndromes: (With Presentation of Two Cases of Partial Trisomy for the E Group of Chromosomes).常染色体三体及部分三体综合征：（附两例E组染色体部分三体病例报告）

Can Med Assoc J. 1963 Feb 23;88(8):389-96.

An insertional translocation in neurospora that generates duplications heterozygous for mating type.在 Neurospora 中发生的插入易位，产生了杂合子的交配型重复。

Genetics. 1972 May;71(1):25-51. doi: 10.1093/genetics/71.1.25.

A PROBABLE CASE OF INCOMPLETE TRISOMY OF A CHROMOSOME OF THE 13-15 GROUP.一例可能的13 - 15组染色体不完全三体病例。

J Med Genet. 1965 Jun;2(2):136-41. doi: 10.1136/jmg.2.2.136.

A FAMILIAL CHROMOSOME VARIANT IN A SUBJECT WITH ANOMALOUS SEX DIFFERENTIATION.一名性分化异常患者的家族性染色体变异

Am J Hum Genet. 1963 Dec;15(4):465-75.

Chromosomal study in patients with cysts of the jaw, multiple nevoid basal cell carcinomata and bifid rib syndrome.颌骨囊肿、多发性痣样基底细胞癌和肋骨分叉综合征患者的染色体研究

Chromosoma. 1963;14:146-53. doi: 10.1007/BF00336756.

The demonstration of secondary constrictions in human chromosomes by means of a new technique.运用一项新技术对人类染色体中的次缢痕进行的显示。

Am J Hum Genet. 1963 Mar;15(1):24-33.

[Chromosome anomalies in the blood cells of a child with multiple abnormalities].[一名患有多种异常的儿童血细胞中的染色体异常]

Klin Wochenschr. 1962 Oct 15;40:1058-67. doi: 10.1007/BF01484591.

Partial inversion of the secondary constriction of chromosome 9. Does it exist?9号染色体次缢痕的部分倒位。它存在吗？

Hum Genet. 1981;59(4):310-6. doi: 10.1007/BF00295463.

X-linked dominant inherited diseases with lethality in hemizygous males.半合子男性致死的X连锁显性遗传病。

Hum Genet. 1983;64(1):1-23. doi: 10.1007/BF00289472.

Oral-facial-digital syndrome.口面指综合征

Arch Dis Child. 1967 Apr;42(222):214-9. doi: 10.1136/adc.42.222.214.

本文引用的文献

[Hereditary abnormality of the buccal mucosa: abnormal bands and frenula].[颊黏膜的遗传性异常：异常条纹和系带]

Revue Stomatol. 1954 Apr;55(4):209-27.

The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities.口面指综合征：一种伴有相关染色体异常的女性多发先天性疾病。

Pediatrics. 1962 Jun;29:985-95.

The D triisomy syndrome and XO gonadal dysgenesis in two sisters.两姐妹中的D组三体综合征和XO性腺发育不全

Am J Hum Genet. 1961 Jun;13(2):193-204.

Chromosome identification and the Denver report.染色体识别与丹佛报告。

Lancet. 1961 Apr 29;1(7183):933-5. doi: 10.1016/s0140-6736(61)91787-1.

Hypertrophied frenuli, oligophrenia, familial trembling and anomalies of the hand. Report of four cases in one family and a forme fruste in another.系带肥厚、智力发育不全、家族性震颤及手部异常。一个家族中的4例报告及另一家族中的顿挫型病例。

N Engl J Med. 1961 Mar 9;264:486-9. doi: 10.1056/NEJM196103092641004.

[Abnormalities of the buccal frena].[颊系带异常]

Actual Odontostomatol (Paris). 1954 Mar;8(25):7-26.

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