Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding.
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.
Polityko
A
A
Institute of Human Genetics and Anthropology, Jena, Germany.
Starke
H
H
Rumyantseva
N
N
Claussen
U
U
Liehr
T
T
Raskin
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding / Q000379:methods; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005260:Female; D020440:Gene Duplication; D015321:Gene Rearrangement / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D014314:Trisomy