相似文献
1
Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-).
J Med Genet. 1972 Sep;9(3):280-6. doi: 10.1136/jmg.9.3.280.
2
Presumed disturbance of a nucleolus organizer in man: chromosome 13qs and monosomy 15 mosaicism.
Humangenetik. 1971;12(1):50-5. doi: 10.1007/BF00291032.
3
Double monosomy mosaicism (45,X-45, XX,21-) in a retarded child with multiple congenital malformations.
Cytogenetics. 1971;10(6):404-12. doi: 10.1159/000130161.
4
Autosomal translocation in a mentally retarded male child with 46,XY,t(2q-;13q+) complement. Case report and review.
J Med Genet. 1971 Dec;8(4):504-8. doi: 10.1136/jmg.8.4.504.
5
Inherited t(13q14q) in two retarded sisters.
Am J Hum Genet. 1972 Jul;24(4):416-24.
6
A ring chromosome (46,XY,13r) occurring in a family with a D-D translocation 13-,14-, t(13q 14q).
Ann Genet. 1969 Mar;12(1):51-6.
7
Study of a patient with apparent monosomy 21 owing to translocation: 45,XX,21-,t(18q+).
Cytogenetics. 1971;10(6):413-26. doi: 10.1159/000130162.
8
Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.
J Med Genet. 1995 Jan;32(1):68-71. doi: 10.1136/jmg.32.1.68.
9
[A case with mosaicism of partial monosomy G- monosomy G in peripheral blood lymphocytes].
Humangenetik. 1968;6(4):303-10.
10
Trisomy of the short arm of chromosome 8: association with translocation between chromosomes 8 and 22 46,XY,22-,t(8p22q) plus.
Clin Genet. 1973 Jun;4(6):507-16. doi: 10.1111/j.1399-0004.1973.tb01940.x.
引用本文的文献
1
A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review.
Genes (Basel). 2021 Sep 7;12(9):1388. doi: 10.3390/genes12091388.
2
Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.
Mol Cytogenet. 2020 Feb 6;13:6. doi: 10.1186/s13039-020-0473-x. eCollection 2020.
3
Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.
J Med Genet. 1993 Jan;30(1):73-5. doi: 10.1136/jmg.30.1.73.
4
Nondisjunction of a translocation-chromosome t(4;13).
Hum Genet. 1981;59(4):337-41. doi: 10.1007/BF00295467.
5
6
Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+).
Humangenetik. 1973;20(2):187-9. doi: 10.1007/BF00284860.
7
Tertiary partial 14 trisomy 47, XX, plus 14q minus.
Humangenetik. 1974;24(1):71-7. doi: 10.1007/BF00281111.
8
Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim.
Humangenetik. 1974;22(4):287-98. doi: 10.1007/BF00295488.
9
Tertiary trisomy, 47,XX,+14q--, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24).
Hum Genet. 1976 Aug 30;33(3):331-4. doi: 10.1007/BF00286862.
10
46,XX/47XX, + 14 mosaicism in a liveborn infant.
J Med Genet. 1977 Jun;14(3):214-8. doi: 10.1136/jmg.14.3.214.
本文引用的文献
1
THE DUFFY BLOOD GROUP SYSTEM IN CAUCASIANS: EVIDENCE FOR A NEW ALLELE.
Am J Hum Genet. 1965 Sep;17(5):384-9.
2
DNA REPLICATION PATTERNS OF HUMAN CHROMOSOMES.
Cytogenetics. 1963;2:175-93. doi: 10.1159/000129778.
3
PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS.
Ann Hum Genet. 1963 Aug;27:67-84. doi: 10.1111/j.1469-1809.1963.tb00782.x.
4
Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents.
Exp Cell Res. 1970 Oct;62(2):490-2. doi: 10.1016/0014-4827(70)90586-0.
5
[Trisomy D2 in a 2 and one-half year old girl (47,XX,14+)].
Humangenetik. 1970;10(3):254-68. doi: 10.1007/BF00295788.
6
Probable assignment of the Duffy blood group locus to chromosome 1 in man.
Proc Natl Acad Sci U S A. 1968 Nov;61(3):949-55. doi: 10.1073/pnas.61.3.949.
7
Possible linkage between uncoiler chromosome Un 1 and amylase polymorphism Amy 2 loci.
Humangenetik. 1971;11(3):213-20. doi: 10.1007/BF00274740.
8
Probable genetic linkage between human serum amylase (Amy 2 ) and Duffy blood group.
Nature. 1972 Jan 21;235(5334):162-3. doi: 10.1038/235162a0.
9
Familial C-G translocation causing mitotic nondisjunction. A cause of familial mosaic Down's syndrome.
Am J Dis Child. 1968 Dec;116(6):609-14. doi: 10.1001/archpedi.1968.02100020613007.
10
Identification of human chromosomes by DNA-binding fluorescent agents.
Chromosoma. 1970;30(2):215-27. doi: 10.1007/BF00282002.
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