Deletion 10q23.2‐q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden‐like syndrome

@article{Tsuchiya1998Deletion1I,
  title={Deletion 10q23.2‐q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden‐like syndrome},
  author={Karen D Tsuchiya and Georgia L. Wiesner and Suzanne B. Cassidy and Chanin Limwongse and J. Timothy Boyle and S Schwartz},
  journal={Genes},
  year={1998},
  volume={21}
}
A cytogenetically visible interstitial deletion of chromosome band 10q23 was found in a 6‐year‐old boy with mental retardation, dysmorphic features, and juvenile polyposis coli. In order to map this patient's deletion physically, we performed fluorescence in situ hybridization by using yeast artificial chromosomes (YACs) in the vicinity of the deletion. Five YACs that span an 11–15 cM region within the deletion were identified. This patient's deletion contains the putative locus for Cowden… 
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A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome
TLDR
The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novo character of the deletion.
Interstitial deletion of 10q23.1 and confirmation of three 10qdel syndromes.
TLDR
This case confirms that patients with microdeletions in the 10q23 region can be further divided into three sub-classes, depending on whether the deletion encompasses the BMPR1A gene, the PTEN gene or both.
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non‐polyposis colorectal cancer
TLDR
The patient was found to harbour a microdeletion within chromosome 2p16‐p21, including the MSH2 gene, which sets the grounds for the definition of a novel multiple congenital anomaly/mental retardation/cancer micro deletion syndrome.
Overlap of juvenile polyposis syndrome and cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: Implications for treatment and surveillance
TLDR
This case presents new challenges in developing appropriate surveillance algorithms to account for the risks associated with each syndrome and highlights the importance of longitudinal follow‐up and transitional care between pediatric and adult gastroenterology for patients with hereditary polyposis syndromes.
A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation
Aggressive juvenile polyposis in children with chromosome 10q23 deletion.
TLDR
Aggressive gastrointestinal surveillance in children with 10q23 microdeletions encompassing the BMPR1A and PTEN genes is proposed to include both the upper and lower gastrointestinal tracts, and a flowchart for an effective genetic testing strategy inChildren with juvenile polyposis is proposed.
Juvenile Polyposis of Infancy Associated with Paracentric Inversion and Deletion of Chromosome 10 in a Hispanic Patient: A Case Report
TLDR
The case of a 3-year-old girl with juvenile polyposis of infancy who eventually died from mesenteric artery thrombosis during surgical colectomy is presented.
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
TLDR
Constutive DNA samples from 43 BRR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and BRR, were screened for PTEN mutations, finding no significant difference in mutation status was found.
Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach
TLDR
Large rearrangements of the PTEN gene can be involved as causing mutation in Cowden disease and MAPH is an efficient screening methodology to detect such a genetic alteration.
Familial Adenomatous Polyposis and Mental Retardation Caused by a de novo Chromosomal Deletion at 5q15-q22: Report of a Case
TLDR
Individuals with chromosomal deletions involving 5q21 should be considered at-risk for familial adenomatous polyposis and offered standard screening with flexible sigmoidoscopy by 10 to 12 years of age.
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