Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.

ABSTRACT:

Background

Partial monosomies of chromosome 16q are rare and overlapping effects from complex chromosomal rearrangements often hamper genotype-phenotype correlations for such imbalances. Here, we report the clinical features of an isolated partial monosomy 16q21q22.1 in a boy with a complex de novo rearrangement possibly resulting from a chromothripsis event.

Results

The patient presented with low birth weight, microcephaly, developmental delay, facial dysmorphisms, short stature, dysmorphic ears and cardiopathy. Standard and molecular cytogenetics showed a complex rearrangement characterised by a pericentromeric inversion in one of chromosomes 12 and an inverted insertional translocation of the 12q14q21.1 region, from the rearranged chromosome 12, into the q21q22.1 tract of

SUBMITTER: Genesio R 

PROVIDER: S-EPMC3737039 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature