Chromosome 16p11.2 Deletion Syndrome, 220-kb

Description

The deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene (OMIM ), is associated with a highly penetrant form of isolated severe early-onset obesity as well as obesity with developmental delay (summary by Bachmann-Gagescu et al., 2010).An extended 1.7-Mb deletion of chromosome 16p11.2 containing both the 220-kb region and the proximal 593-kb region associated autism (see {611913}) has been reported in 2 patients with a syndrome of autism, mental retardation, and obesity and in 2 patients with pervasive developmental disorder, auditory processing difficulties, and attention deficit-hyperactivity disorder but not obesity.For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see {606641}.

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 16p11.2 Deletion Syndrome, 220-kb

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis
  • Obesity
  • Rod-cone dystrophy
  • Constipation
  • Narrow mouth
  • Headache
And another 19 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Chromosome 16p11.2 Deletion Syndrome, 220-kb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SH2B1.

By Fulgent Genetics Fulgent Genetics in United States.

SH2B1
Specificity
100 %
Genes
100 %

Alternate names

Chromosome 16p11.2 Deletion Syndrome, 220-kb Is also known as ;distal del(16)(p11.2); distal monosomy 16p11.2.



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