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Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature.

作者信息

Ming P M, Goodner D M, Park T S

出版信息

Am J Dis Child. 1976 Aug;130(8):864-7. doi: 10.1001/archpedi.1976.02120090074014.

DOI:10.1001/archpedi.1976.02120090074014
PMID:941887
Abstract

A new infant with classical features of holoprosencephaly and multiple extracranial malformations was found to have abnormal karyotype: 47, XX, + 13. Although trisomy D has been reported in a few cases, our case is the first, to our knowledge, in which positive identification of trisomy 13 was made by banding technique in cebocephaly.

摘要

相似文献

1
Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature.
Am J Dis Child. 1976 Aug;130(8):864-7. doi: 10.1001/archpedi.1976.02120090074014.
2
Premaxillary agenesis, ocular hypotelorism holoprosencephaly, and extracranial anomalies in an infant with a normal karyogram.核型正常婴儿的前颌骨发育不全、眼距过窄、全前脑畸形及颅外畸形
Cleft Palate J. 1980 Jul;17(3):197-204.
3
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.
4
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.
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Pseudo-trisomy 13 syndrome: report of one case.假三体13综合征:1例报告。
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 Nov-Dec;33(6):441-5.
6
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.
7
Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.全前脑畸形:临床变异性和病因异质性实例
Am J Med Genet. 1990 Oct;37(2):244-9. doi: 10.1002/ajmg.1320370216.
8
Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter leads to q32:)].简要临床报告:一名患有7号染色体长臂末端缺失[46,XX,del(7)(pter导致q32:)]的新生儿女孩的鼻眼发育不全-前脑无裂畸形。
Am J Med Genet. 1983 May;15(1):141-4. doi: 10.1002/ajmg.1320150119.
9
A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.一名患有14三体嵌合体和中性粒细胞核异常的活产婴儿。
J Med Genet. 1984 Dec;21(6):467-70. doi: 10.1136/jmg.21.6.467.
10
Trisomy D-trisomy E mosaicism in an infant male.一名男婴的D三体-E三体嵌合体
J Med Genet. 1971 Sep;8(3):384-6. doi: 10.1136/jmg.8.3.384.

引用本文的文献

1
Alobar Holoprosencephaly with Cebocephaly in a Neonate Born to an HIV-Positive Mother in Eastern Uganda.乌干达东部一名感染艾滋病毒的母亲所生新生儿患无脑叶全前脑畸形并伴有鼻眼发育不全
Case Rep Otolaryngol. 2021 Oct 25;2021:7282283. doi: 10.1155/2021/7282283. eCollection 2021.
2
Holoprosencephaly in the west of Scotland 1975-1994.1975 - 1994年苏格兰西部的前脑无裂畸形
J Med Genet. 1996 Jul;33(7):578-84. doi: 10.1136/jmg.33.7.578.
3
Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31.视网膜母细胞瘤、严重的内部畸形以及13号染色体长臂14区至31区的缺失。
Hum Genet. 1981;56(3):283-6. doi: 10.1007/BF00274680.
4
What is the incidence of holoprosencephaly?全前脑畸形的发病率是多少?
J Med Genet. 1984 Feb;21(1):21-6. doi: 10.1136/jmg.21.1.21.
5
The cyclops and the mermaid: an epidemiological study of two types of rare malformation.独眼畸形与美人鱼综合征:两种罕见畸形的流行病学研究
J Med Genet. 1992 Jan;29(1):30-5. doi: 10.1136/jmg.29.1.30.
6
Cranial morphology in the 18p-syndrome.
Eur J Pediatr. 1978 Aug 17;129(1):61-5. doi: 10.1007/BF00441375.