Abstract:
:In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. Fluorescence in situ hybridization (FISH) analysis using high resolution multicolor banding (MCB) characterized the aberrations of the abnormal chromosomes 1 as a (sub)terminal duplication and inverted duplications, respectively. Although three different chromosomal regions i.e. 1p36.1, 1p36.2-->1p31.3 and 1q41-->1q44 were involved, all three patients had similar patterns of dysmorphic findings. These cases demonstrate the power of MCB in the characterization of small interstitial chromosomal aberrations and resulted in the characterization of three previously unreported congenital chromosome 1 rearrangements.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Polityko A,Starke H,Rumyantseva N,Claussen U,Liehr T,Raskin Sdoi
10.1159/000086388keywords:
subject
Has Abstractpub_date
2005-01-01 00:00:00pages
171-4issue
2eissn
1424-8581issn
1424-859Xpii
86388journal_volume
111pub_type
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