一名患有18三体综合征的婴儿出现头面部畸形。
Cebocephaly in an infant with trisomy 18.
作者信息
Hunter A G, Ray M, Langston C
出版信息
J Med Genet. 1977 Aug;14(4):291-2. doi: 10.1136/jmg.14.4.291.
Abstract
An infant who died in the perinatal period with the unusual association of trisomy 18 and cebocephaly is described. It is suggested that this association may be more common than is generally recognised because the majority of such infants are stillborn or live only briefly and often do not have chromosome studies performed.
摘要
本文描述了一名在围产期死亡的婴儿，其患有18三体综合征并伴有头面正中裂这种不寻常的关联。有人认为，这种关联可能比普遍认识到的更为常见，因为大多数此类婴儿为死产或仅存活短暂时间，且往往未进行染色体研究。
相似文献
1
Cebocephaly in an infant with trisomy 18.一名患有18三体综合征的婴儿出现头面部畸形。
J Med Genet. 1977 Aug;14(4):291-2. doi: 10.1136/jmg.14.4.291.
2
Further studies on the genetic heterogeneity of cebocephaly.关于头面正中裂畸形遗传异质性的进一步研究。
J Med Genet. 1976 Aug;13(4):314-8. doi: 10.1136/jmg.13.4.314.
3
Trisomy 22 with 'cat eye' anomaly.伴有“猫眼”异常的22三体综合征。
J Med Genet. 1977 Aug;14(4):288-90. doi: 10.1136/jmg.14.4.288.
4
Genetic heterogeneity of cebocephaly.无脑畸形的遗传异质性。
J Med Genet. 1974 Mar;11(1):35-40. doi: 10.1136/jmg.11.1.35.
5
Trisomy D and the cyclops malformation.D三体与独眼畸形。
Am J Dis Child. 1972 Nov;124(5):710-3. doi: 10.1001/archpedi.1972.02110170088014.
6
Trisomy 13 in two infants with cyclops.两名患有独眼畸形的婴儿出现13三体综合征。
J Med Genet. 1973 Sep;10(3):294-6. doi: 10.1136/jmg.10.3.294.
7
[Morphologic abnormality due to duplication of chromosome 17 (46,XY,17q+) in a newborn infant].[一名新生儿因17号染色体重复导致的形态学异常（46,XY,17q+）]
Union Med Can. 1974 Aug;103(8):1404-8.
8
[One case of cyclopia with D trisomy].[1例独眼畸形合并D三体综合征]
Pediatrie. 1972 Oct-Nov;27(7):757-67.
9
Trisomy 18 in sibs and maternal chromosome 9 variant.同胞中的18三体综合征与母亲的9号染色体变异
Birth Defects Orig Artic Ser. 1978;14(6C):297-301.
10
Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.具有异常核型的18三体综合征：可能为双等臂染色体。
J Med Genet. 1978 Feb;15(1):73-6. doi: 10.1136/jmg.15.1.73.
引用本文的文献
1
A case of suspected teratogenic holoprosencephaly.
J Med Genet. 1985 Apr;22(2):147-9. doi: 10.1136/jmg.22.2.147.
本文引用的文献
1
Chromosome constitution of 500 infants dying during the perinatal period. With an appendix concerning other genetic disorders among these infants.500例围产期死亡婴儿的染色体构成。附录涉及这些婴儿中的其他遗传疾病。
Humangenetik. 1974;23(3):183-98. doi: 10.1007/BF00285104.
2
Letter: Chromosome abnormality and perinatal death.
Lancet. 1974 Apr 20;1(7860):752. doi: 10.1016/s0140-6736(74)92977-8.
3
Trisomy 18 and cyclopia.
Teratology. 1976 Oct;14(2):195-203. doi: 10.1002/tera.1420140210.
4
Further studies on the genetic heterogeneity of cebocephaly.关于头面正中裂畸形遗传异质性的进一步研究。
J Med Genet. 1976 Aug;13(4):314-8. doi: 10.1136/jmg.13.4.314.
5
Median facial malformations and their implications for brain malformations.面部正中畸形及其对脑畸形的影响。
Birth Defects Orig Artic Ser. 1975;11(7):155-81.
6
Chromosome anomalies of infants dying during the perinatal period and premature newborn.
Hum Genet. 1976 Feb 29;31(2):151-60. doi: 10.1007/BF00296143.
Zotero 插件