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Trisomy 14q-.

作者信息

Fawcett W A, McCord W K, Francke U

出版信息

Birth Defects Orig Artic Ser. 1975;11(5):223-8.

PMID:1218218
Abstract

Trisomy 14q- syndrome is relatively new and needs further delineation. In comparing our case with other reported cases (Table 1), some similarities are seen. Although the comparison of our case of partial trisomy 14 with the other cases reported in the literature may not be entirely justified (in that the reciprocal translocations are not always identical), it is hoped that by doing so, we can further delineate the common features and prognosis of such individuals.

摘要

相似文献

1
Trisomy 14q-.
Birth Defects Orig Artic Ser. 1975;11(5):223-8.
2
[Partial trisomy 14q II.--Partial trisomy 14q due to a maternal t(12; 14) (q24.4; q21)].[14号染色体长臂部分三体II型。——由于母亲的t(12; 14)(q24.4; q21)导致的14号染色体长臂部分三体]
Ann Genet. 1975 Mar;18(1):41-4.
3
De novo balanced translocation: 46, XX, t(13;20)(q34;p 11).新发平衡易位:46,XX,t(13;20)(q34;p11)。
Endocrinologie. 1978 Oct-Dec;16(4):295-8.
4
Partial trisomy 4q.
Ann Genet. 1977 Dec;20(4):243-8.
5
[Partial trisomy (10pter leads to 10q21) and partial monosomy (21pter leads to 21q21) due to a reciprocal balanced familial translocation (10;21)(q21;q21) (author's transl)].由于家族性相互平衡易位(10;21)(q21;q21)导致的部分三体性(10号染色体短臂末端至10q21)和部分单体性(21号染色体短臂末端至21q21)(作者译)
Ann Genet. 1980;23(4):216-20.
6
[Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression].[3号染色体短臂部分三体。病例报告及表型表达]
Monatsschr Kinderheilkd. 1991 Dec;139(12):841-3.
7
[T (14q-; 21q + ) translocation in the father. Partial trisomy 14 and monosomy 21 in the daughter].[父亲存在T(14q-; 21q +)易位。女儿存在14号染色体部分三体和21号染色体单体]
Ann Genet. 1973 Dec;16(4):281-4.
8
Duplication 11 (q22----qter) in an infant. A case report with review.一名婴儿的11号染色体(q22至qter)重复。病例报告及文献复习
Ann Genet. 1985;28(3):185-8.
9
Partial trisomy for different segments of chromosome 13 in several individuals of the same family.同一家族的数名个体中13号染色体不同片段的部分三体性。
Birth Defects Orig Artic Ser. 1975;11(5):217-22.
10
Trisomy 6q22 leads to 6qter due to maternal 6;21 translocation. Case report review of the literature.由于母亲的6号与21号染色体易位,6q22三体导致了6qter。病例报告及文献综述。
Ann Genet. 1983;26(4):243-6.

引用本文的文献

1
Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.胎儿母体9号染色体短臂23区至24.3区及14号染色体长臂11.2区至21.3区部分三体的产前诊断:病例报告
Mol Cytogenet. 2020 Feb 6;13:6. doi: 10.1186/s13039-020-0473-x. eCollection 2020.
2
Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.近端14q部分三体家庭中平衡易位(14)携带者的生育可能性。
J Med Genet. 1993 Jan;30(1):73-5. doi: 10.1136/jmg.30.1.73.
3
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.
“猫眼综合征”:双着丝粒小标记染色体可能源自22号染色体(22号染色体短臂末端至q11的四体性),伴有特征性表型。11例患者报告及临床表现描述。
Hum Genet. 1981;57(2):148-58. doi: 10.1007/BF00282012.
4
Tertiary trisomy 14q--, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22).由于父亲平衡易位46,XY,t(1;14)(q44;q22)导致的14号染色体长臂三次三体性
Hum Genet. 1979 Jun 19;49(2):175-8. doi: 10.1007/BF00277639.