Should we report 15q11 2 BP1-BP2 deletions and duplications in the prenatal setting?

We conclude that the pathogenicity of 15q11. 2 BP1-BP2 deletions and duplications is low. Opting out the report of these copy number variations to both clinicians and couples should be considered.

What is 15q duplication syndrome?

15q11-q13 duplication syndrome (dup15q syndrome) is a developmental disorder; its signs and symptoms vary among affected individuals. Poor muscle tone (hypotonia) is common in individuals with dup15q syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking.

What is BP1-BP2?

The 15q11. 2 BP1-BP2 microdeletion involving four genes (i.e., TUBGCP5, CYFIP1, NIPA1, NIPA2) is emerging as a recognized syndrome with a prevalence ranging from 0.57%-1.27% of patients presenting for microarray analysis which is a two to four fold increase compared with controls.

What is Burnside Butler syndrome?

2 BP1–BP2 microdeletion (Burnside–Butler) syndrome involves only four genes in the region and can present with cognitive impairment, language and/or motor delay, autism, behavioral problems, poor coordination, ataxia, and congenital anomalies but not with AS or PWS.

What does 15q11 q13 mean?

Introduction. Chromosome 15q11-q13 is a region that harbors several genes regulated by genomic imprinting, a phenomenon in which genes are expressed preferentially from one parental allele. As a result, genes subject to regulation by genomic imprinting are functionally haploid, having only a single functional copy.

What happens if you have an extra 15 chromosome?

Duplication of a region of the long (q) arm of chromosome 15 can result in 15q11-q13 duplication syndrome (dup15q syndrome), a condition whose features can include weak muscle tone (hypotonia), intellectual disability, recurrent seizures (epilepsy), characteristics of autism spectrum disorder affecting communication …

How is Edwards syndrome caused?

Cause of Edwards’ syndrome Having 3 copies of chromosome 18 usually happens by chance, because of a change in the sperm or egg before a baby is conceived. Your chance of having a baby with Edwards’ syndrome increases as you get older, but anyone can have a baby with Edwards’ syndrome.

How common is 15q11 2 deletion?

The 15q11. 2 BP1–BP2 microdeletion involving four genes (i.e., TUBGCP5, CYFIP1, NIPA1, NIPA2) is emerging as a recognized syndrome with a prevalence ranging from 0.57%–1.27% of patients presenting for microarray analysis which is a two to four fold increase compared with controls.

What happens when you are missing chromosome 15?

Features that often occur in people with chromosome 15q deletion include developmental delay , intellectual disability , behavioral problems, and distinctive facial features. Most cases are not inherited , but people can pass the deletion on to their children.

What is the cause of Wolf Hirschhorn Syndrome?

What is the cause of Wolf-Hirschhorn syndrome? WHS is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes referred to and written as 4p-.

Why is chromosome 15 important?

A larger isodicentric chromosome 15 can result in weak muscle tone (hypotonia), mental retardation, seizures, and behavioral problems. Signs and symptoms of autism (a developmental disorder that affects communication and social interaction) have also been associated with the presence of an isodicentric chromosome 15.

What is the rarest chromosomal disorder?

Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature.

What are the effects of 15q11.2-q13.1 Duplication?

A maternal interstitial 15q11.2-q13.1 duplication that typically includes one extra copy of 15q11.2-q13.1 within chromosome 15, resulting in trisomy for 15q11.2-q13.1 (~20% of cases). Dup15q is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms.

How many BP1-BP2 deletions are there in the world?

Burnside et al. (2011) identified heterozygous, approximately 500-kb deletions of BP1-BP2 in 69 (0.41%) of about 17,000 individuals referred for microarray analysis. Clinical information was available for 56 of these patients. Developmental delay and motor delay were found in 59% and 36% of all patients, respectively.

How is the diagnosis of Dup15q made?

Diagnosis/testing. The diagnosis of dup15q is established by detection of at least one extra maternally derived copy of the PWACR, a region approximately 5 Mb long within chromosome 15q11.2-q13.1. Management.

Where is the duplication of chromosome 15q located?

People with chromosome 15q duplication have an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 in each cell. The features associated with the condition vary significantly from person to person depending on the size and location of the duplication and which genes are involved.