Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10) - a case report and a family study

被引：7

作者：

Wysocka, B

Brozek, I

Wierzba, J

Kardas, I

Wozniak, A

Kowalczyk, J

Balcerska, A

Limon, J

机构：

[1] Med Univ Gdansk, Dept Biol & Genet, PL-80210 Gdansk, Poland

[2] Med Univ Gdansk, Dept Pediat Hematol Oncol & Endrocrinol, PL-80210 Gdansk, Poland

[3] Med Univ Lublin, Dept Pediat Hematol Oncol, Lublin, Poland

来源：

ANNALES DE GENETIQUE | 2002年 / 45卷 / 03期

关键词：

reciprocal translocation; Robertsonian translocation; chromosome; 5; chromosome X; partial trisomy; partial monosomy;

D O I：

10.1016/S0003-3995(02)01124-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This paper presents the family of a dysmorphic child with the phenotypic features of Turner's syndrome and 5q trisomy, whose parents are both carriers of a balanced translocation. The parents' karyotypes are 46,X,t(X;5)(p11.1;q31) and 45,XY,der(13;14)(q10;q10), respectively. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved.

引用

页码：143 / 146

页数：4

共 3 条

[1] Molecular and cytogenetic characterisation of an unusual case of partial trisomy partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14)
Gentile, M
Buonadonna, AL
Cariola, F
Fiorente, P
Valenzano, MC
Guanti, G
JOURNAL OF MEDICAL GENETICS, 1999, 36 (01) : 77 - 82
[2] A case of chronic myelomonocytic leukemia with severe eosinophilia having t(5;12)(q31;p13) with t(1;7)(q10;p10)
Kim, M
Lim, J
Lee, A
Park, G
Kim, Y
Han, K
Kang, CS
Kim, YJ
Song, JS
ACTA HAEMATOLOGICA, 2005, 114 (02) : 104 - 107
[3] TRISOMY FOR THE SHORT ARM OF CHROMOSOME-10 - REPORT OF A NEW CASE RESULTING FROM SEGREGATION OF A MATERNAL BALANCED TRANSLOCATION T(10QTER-]Q11-14P11-]QTER)
DELAROCHE, I
BRUNI, L
GIANNOTTI, A
GIAMPAOLO, R
AEBISCHER, ML
HELVETICA PAEDIATRICA ACTA, 1984, 39 (02) : 161 - 166

← 1 →