+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

A phenotype map for 14q32.3 terminal deletions



A phenotype map for 14q32.3 terminal deletions



American Journal of Medical Genetics. Part a 158a(4): 695-706



Detailed molecular-cytogenetic studies combined with thorough clinical characterization are needed to establish genotype-phenotype correlations for specific chromosome deletion syndromes. Although many patients with subtelomeric deletions have been reported, the phenotype maps for many of the corresponding syndromes, including the terminal deletion 14q syndrome, are only slowly emerging. Here, we report on five patients with terminal partial monosomy of 14q32.3 and characteristic features of terminal deletion 14q syndrome. Four of the patients carry de novo terminal deletions of 14q, three of which have not yet been reported. One patient carries an unbalanced translocation der(14)t(9;14)(q34.3;q32.3). Minimum deletion sizes as determined by molecular karyotyping and FISH are 5.82, 5.56, 4.17, 3.54, and 3.29 Mb, respectively. Based on our findings and a comprehensive review of the literature, we refine the phenotype map for typical clinical findings of the terminal deletion 14q syndrome (i.e., intellectual disability/developmental delay, muscular hypotonia, postnatal growth retardation, microcephaly, congenital heart defects, genitourinary malformations, ocular coloboma, and several dysmorphic signs). Combining this phenotype map with benign copy-number variation data available from the Database of Genomic Variants, we propose a small region critical for certain features of the terminal deletion 14q syndrome which contains only seven RefSeq genes.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 051209221

Download citation: RISBibTeXText

PMID: 22367666

DOI: 10.1002/ajmg.a.35256


Related references

Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia. European Journal of Human Genetics 16(6): 680-687, 2008

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature. American Journal of Medical Genetics. Part a 170a(4): 1017-1022, 2016

Terminal 14q32.33 deletion: genotype-phenotype correlation. American Journal of Medical Genetics. Part a 140(21): 2324-2329, 2006

Terminal deletions of 2q Is there a consistent phenotype?. American Journal of Human Genetics 51(4 Suppl. ): A104, 1992

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. American Journal of Medical Genetics 74(5): 515-520, 1997

Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype. American Journal of Medical Genetics. Part a 152a(2): 441-446, 2010

A recognisable behaviour phenotype associated with terminal deletions of the short arm of chromosome 8. American Journal of Medical Genetics 74(5): 515-520, 1997

Terminal deletions may not be terminal FISHing for mechanisms of chromosomal 1p36 deletions using telomere region-specific probes. American Journal of Human Genetics 65(4): A73, 1999

FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures. American Journal of Medical Genetics. Part a 138a(3): 218-224, 2005

Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis. British Journal of Haematology 117(2): 427-435, 2002

14q32 translocations and 13q14 deletions are common cytogenetic abnormalities in POEMS syndrome. European Journal of Haematology 91(6): 490-496, 2013

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nature Genetics 40(2): 7-42, 2008

Oligomycin sensitivity conferring protein of mitochondrial ATP synthase: deletions in the N-terminal end cause defects in interactions with F1, while deletions in the C-terminal end cause defects in interactions with F0. Biochemistry 35(37): 12094-12103, 1996

Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia. Clinical Immunology 183: 41-45, 2017

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype. Clinical Genetics 75(3): 251-258, 2009