Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c

J Hudson; S Chown; M Lawler; C Duggan; I J Temperley; L Secker-Walker; Mark Lawler

Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c

J Hudson, S Chown, M Lawler, C Duggan, I J Temperley, L Secker-Walker, Mark Lawler

Research output: Contribution to journal › Article › peer-review

Abstract

Severe aplastic anaemia (SAA) is an uncommon disorder which may be associated with several congenital syndromes. However, it has rarely been described in association with a constitutional karyotypic abnormality. The breakpoint of the balanced t(6:10)(q13:q22) translocation described here does not disrupt any currently recognized gene of haemopoietic or stromal importance. This report also highlights the problems inherent in the use of bone marrow transplantation (BMT) for treating multiply transfused aplastic anaemia patients.

Original language	English
Pages (from-to)	520-1
Number of pages	2
Journal	British Journal of Haematology
Volume	99
Issue number	3
Publication status	Published - Dec 1997

Keywords

Adolescent
Anemia, Aplastic
Bone Marrow Transplantation
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 6
Fatal Outcome
Humans
Karyotyping
Male
Translocation, Genetic

Cite this

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title = "Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c",

abstract = "Severe aplastic anaemia (SAA) is an uncommon disorder which may be associated with several congenital syndromes. However, it has rarely been described in association with a constitutional karyotypic abnormality. The breakpoint of the balanced t(6:10)(q13:q22) translocation described here does not disrupt any currently recognized gene of haemopoietic or stromal importance. This report also highlights the problems inherent in the use of bone marrow transplantation (BMT) for treating multiply transfused aplastic anaemia patients.",

keywords = "Adolescent, Anemia, Aplastic, Bone Marrow Transplantation, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 6, Fatal Outcome, Humans, Karyotyping, Male, Translocation, Genetic",

author = "J Hudson and S Chown and M Lawler and C Duggan and Temperley, {I J} and L Secker-Walker and Mark Lawler",

year = "1997",

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language = "English",

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pages = "520--1",

journal = "British Journal of Haematology",

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TY - JOUR

T1 - Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c

AU - Hudson, J

AU - Chown, S

AU - Lawler, M

AU - Duggan, C

AU - Temperley, I J

AU - Secker-Walker, L

AU - Lawler, Mark

PY - 1997/12

Y1 - 1997/12

N2 - Severe aplastic anaemia (SAA) is an uncommon disorder which may be associated with several congenital syndromes. However, it has rarely been described in association with a constitutional karyotypic abnormality. The breakpoint of the balanced t(6:10)(q13:q22) translocation described here does not disrupt any currently recognized gene of haemopoietic or stromal importance. This report also highlights the problems inherent in the use of bone marrow transplantation (BMT) for treating multiply transfused aplastic anaemia patients.

AB - Severe aplastic anaemia (SAA) is an uncommon disorder which may be associated with several congenital syndromes. However, it has rarely been described in association with a constitutional karyotypic abnormality. The breakpoint of the balanced t(6:10)(q13:q22) translocation described here does not disrupt any currently recognized gene of haemopoietic or stromal importance. This report also highlights the problems inherent in the use of bone marrow transplantation (BMT) for treating multiply transfused aplastic anaemia patients.

KW - Adolescent

KW - Anemia, Aplastic

KW - Bone Marrow Transplantation

KW - Chromosomes, Human, Pair 10

KW - Chromosomes, Human, Pair 6

KW - Fatal Outcome

KW - Humans

KW - Karyotyping

KW - Male

KW - Translocation, Genetic

M3 - Article

C2 - 9401059

SN - 0007-1048

VL - 99

SP - 520

EP - 521

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 3

ER -

Severe aplastic anaemia in association with a unique constitutional translocation 46,XY,t(6;10)(q13;q22)c

Abstract

Keywords

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