Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.

ABSTRACT:

Background

The 15q11-q13 region contains many low copy repeats and is well known for its genomic instability. Several syndromes are associated with genomic imbalance or copy-number-neutral uniparental disomy. We report on two patients: Patient 1 is a boy with developmental delay and autism; and Patient 2 is a girl with developmental delay, hypotonia and dysmorphism. We performed analyses to delineate their dosage in the 15q region, determine whether the patients' dosage correlates with phenotypic severity, and whether genes in the amplified regions are significantly associated with identified functional networks.

Results

For the proximal region of 15q, molecular cytogenetic analysis with Agilent oligonucleotide array showed a copy number of 3 for Patient 1 and a copy number

SUBMITTER: Tan ES 

PROVIDER: S-EPMC4067100 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature