Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome

Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To date...

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Published in:American journal of medical genetics. Part A 2014-12, Vol.164A (12), p.3076-3082
Main Authors: Quintero-Rivera, Fabiola, Woo, Jennifer S., Bomberg, Eric M., Wallace, W. Dean, Peredo, Jane, Dipple, Katrina M.
Format: Article
Language:English
Subjects:
17q12 microdeletion
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Chromosome Aberrations
Chromosomes, Human, Pair 17 - genetics
duodenal atresia
Duodenal Obstruction - genetics
Female
Hepatocyte Nuclear Factor 1-beta - deficiency
Hepatocyte Nuclear Factor 1-beta - genetics
hepatocyte nuclear factor beta (HNF1B)
Humans
Microarray Analysis
pathology
Phenotype
prenatal
renal cysts
review
Syndrome
TCF2
TCF2, review
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Summary:Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To date, gastrointestinal malformations have not been fully characterized in this syndrome. In this case report, we describe a four‐year‐old girl with a 17q12 microdeletion who was born with duodenal atresia, bilateral renal cysts, left kidney dysplasia, a midline cystic structure at the conus medullaris, and dysmorphic features. Both the patient and her affected father were found to have a deletion of 17q12, which encompasses the HNF1B (hepatocyte nuclear factor beta). It is hypothesized that HNF1B may play a role in intestinal differentiation and development. Our clinical report further expands the pre‐and post‐natal presentation of this rare microdeletion syndrome. © 2014 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36767