Quick Answer: Tetrasomy 12p

What is Carpenter’s syndrome?

Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.

Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly)..

What is Robinow syndrome?

Autosomal recessive Robinow syndrome is more severe and is characterized by shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones that leads to abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; short stature; and distinctive facial features that are …

What is Laurence Moon Biedl syndrome?

Bardet-Biedl Syndrome (BBS) BBS is characterized by central obesity, intellectual impairment with kidney anomalies, polydactyly, retinal degeneration and hypogenitalism. This condition is associated with a series of different mutations, especially in proteins involved in the assembly of the BBSome.

Who discovered Pallister Killian Syndrome?

This leads to the development of tetrasomy 12p. Because not all cells have the extra isochromosome, Pallister–Killian is a mosaic condition (more readily detected in skin fibroblasts). It was first described by Philip Pallister in 1977 and further researched by Maria Teschler-Nicola and Wolfgang Killian in 1981.

What is the difference between Kubernetes and Cloud Foundry?

Once identified, cloud foundry will create the garden container for you. All this means that with PCF, your build artifact is your native deployment artifact, while in Kubernetes your build artifact is a docker image.

What is Watson’s disease?

Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1.

What is PKS?

VMware Pivotal Container Service (PKS) is a purpose-built product that enables enterprises and service providers to simplify the deployment and operations of Kubernetes- based container services.

What is Docker vs Kubernetes?

A fundamental difference between Kubernetes and Docker is that Kubernetes is meant to run across a cluster while Docker runs on a single node. Kubernetes is more extensive than Docker Swarm and is meant to coordinate clusters of nodes at scale in production in an efficient manner.

What is PKS cloud?

VMware Enterprise PKS is a purpose-built container solution to operationalize Kubernetes for multi-cloud enterprises and service providers. … It provides the latest stable Kubernetes release so developers have the latest features and tools available to them.

What is Trisomy 12p?

Chromosome 12, trisomy 12p, is an extremely rare chromosomal disorder in which a portion of the short arm of the 12th chromosome (12p) appears three times (trisomy) rather than twice in cells of the body.

What is Greig Cephalopolysyndactyly syndrome?

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes (digits) and the head and facial (craniofacial) area.

What is Pallister Killian syndrome?

Pallister-Killian mosaic syndrome is a rare chromosomal disorder caused by the presence of at least four copies of the short arm of chromosome 12 instead of the normal two.

What is Malan syndrome?

Malan syndrome (MIM# 614753; also called as Sotos syndrome 2) is an overgrowth disorder, characterized by overgrowth, an unusual facial phenotype, intellectual disability, and behavioral problems.

What is the 12th chromosome responsible for?

Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells….Chromosome 12GenBankCM000674 (FASTA)19 more rows

Is Trisomy 13 hereditary?

Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes.

What is Weaver syndrome?

Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly ), a variable degree of intellectual disability (usually mild), and characteristic facial features.