Short reports Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family aVected with split foot
نویسندگان
چکیده
We report on a male patient and members of his family with additional material in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsible for neonatal deaths and several abortions in this family. Two members of this family suVer from ectrodactyly or split hand/foot malformations (SHFM) of the feet which possibly correlates with the derivative chromosome 7 containing a breakpoint in the SHFM1 critical region involving several homeobox genes. (J Med Genet 2000;37:442–445)
منابع مشابه
Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature
Chromosomal defects are relatively frequent in infertile men however, translocations between the Y chromosome and autosomes are rare and less than 40 cases of Y-autosome translocation have been reported. In particular, only three individuals has been described with a Y;21 translocation, up to now. We report on an additional case of an infertile man in whom a Y;21 translocation was associated wi...
متن کاملMapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes
The analysis of structural variants associated with specific phenotypic features is promising for the elucidation of the function of involved genes. There is, however, at present no approach allowing the rapid mapping of chromosomal translocation breakpoints to the basepair level from a single chromosome. Here we demonstrate that we have advanced both the microdissection and the subsequent unbi...
متن کاملA Unified Framework for Delineation of Ambulatory Holter ECG Events via Analysis of a Multiple-Order Derivative Wavelet-Based Measure
In this study, a new long-duration holter electrocardiogram (ECG) major events detection-delineation algorithm is described which operates based on the false-alarm error bounded segmentation of a decision statistic with simple mathematical origin. To meet this end, first three-lead holter data is pre-processed by implementation of an appropriate bandpass finite-duration impulse response (FIR) f...
متن کاملCryptic duplication and deletion of 9q34.3 --> qter in a family with a t(9;22)(q34.3;p11.2).
A newborn male was referred for genetic evaluation because of multiple congenital abnormalities. Physical findings included a round face, telecanthus, hypertelorism, a short upturned nose with anteverted nares, small ears, micrognathia, short toes, and congenital heart disease. Chromosome analysis detected a possible deletion of 9qter because of satellite material on 9qter. Delineation by FISH ...
متن کاملSplit hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, inclu...
متن کامل