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Complex chromosomal rearrangements associated with congenital erythrophagocytotic histiocytosis
Author(s) -
Edelhoff Susanne,
GrondGinsbach Caspar,
Eggeling Ferdinand,
Körholz Dieter,
Göbel Ulrich,
Senger Gabriele
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02700.x
Subject(s) - breakpoint , chromosomal translocation , biology , chromosomal rearrangement , chromosomal inversion , genetics , loss of heterozygosity , chromosome engineering , gene , chromosome , karyotype , allele
We describe a patient with a congenital malignant blood disorder and a constitutional de novo chromosomal rearrangement that includes four breakpoints. By conventional cytogenetic analysis an obviously reciprocal balanced translocation with the breakpoints 1p36 and 5q11.2 was diagnosed. Due to a suspicious dark band in the breakpoint area of 1p a more detailed analysis of the breakpoints was performed using microdissection and reverse chromosome painting. This revealed a small inversion at 1p36 that must have occurred prior to the reciprocal translocation. The three breakpoints in chromosome 1 (1p36.11, 1p36.21 and 1p36.31) are within or close by regions known to contain tumor suppressor genes. The chromosomal rearrangement might have resulted either in a submicroscopic deletion, in loss of heterozygosity of one or more imprinted genes, or in gene position effects as possible explanations for the clinical course of our patient.