A child with terminal 14q deletion syndrome: Consideration of genotype–phenotype correlations

Patients with terminal deletions of chromosome 14 usually share a number of clinical features. The syndrome is thought not to be associated with multiple congenital anomalies. We report on a patient having a terminal deletion of about 3.2 Mb, with the breakpoint in 14q32.32. Multiple health problems...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2009-05, Vol.149A (5), p.1012-1018
Main Authors: Schlade‐Bartusiak, Kamilla, Ardinger, Holly, Cox, Diane W.
Format: Article
Language:English
Subjects:
14q terminal deletion
Abnormalities, Multiple - genetics
Biological and medical sciences
CGH
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 14 - genetics
Comparative Genomic Hybridization
Fatal Outcome
Female
Genotype
genotype–phenotype correlation
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Male
Medical genetics
Medical sciences
Phenotype
Syndrome
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Summary:Patients with terminal deletions of chromosome 14 usually share a number of clinical features. The syndrome is thought not to be associated with multiple congenital anomalies. We report on a patient having a terminal deletion of about 3.2 Mb, with the breakpoint in 14q32.32. Multiple health problems led to his early death. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH)), we identified two previously reported patients with deletions in the terminal part of chromosome 14 of almost exactly the same size and compare the phenotypes of all three children. The phenotype of the current patient is much more severe than the phenotypes of the two patients reported previously. The patients also present different sets of dysmorphic features described previously as characteristic for 14q deletion syndrome. Molecular cytogenetic mapping showed that the breakpoints in all three patients were clustered within a 240 kb interval. The possibility of recurrent breakpoint location in terminal 14q deletion syndrome, as well as detailed characterization of the spectrum of phenotypes associated with the syndrome, will require the investigation of multiple patients with similar deletions in 14q. © 2009 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32752