scholarly journals Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

2007 ◽  
Vol 44 (10) ◽  
pp. 637-640 ◽  
Author(s):  
I K Temple ◽  
V Shrubb ◽  
M Lever ◽  
H Bullman ◽  
D J G Mackay
Keyword(s):  
Clinical Presentation ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Maternal Uniparental Disomy

scholarly journals Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected

2019 ◽  
Vol 12 (5) ◽  
pp. e228662 ◽  
Author(s):  
Anna Tortora ◽  
Domenico La Sala ◽  
Fortunato Lonardo ◽  
Mario Vitale
Keyword(s):  
Growth Hormone ◽  
Precocious Puberty ◽  
Clinical Presentation ◽  
Marker Chromosome ◽  
Uniparental Disomy ◽  
Gnrh Analogue ◽  
Chromosome 14 ◽  
Maternal Uniparental Disomy ◽  
Temple Syndrome ◽  
One Year

Uniparental disomy (UPD) is a congenital disease characterised by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Maternal UPD of the chromosome 14 (UPD(14)mat, Temple syndrome) is a rare disorder with heterogeneous clinical presentation. Here, we report a case of UPD(14)mat with a small supernumerary marker chromosome in a 6-year-old baby girl, presenting endocrinological disorders and incomplete clinical presentation. She came to our attention because of precocious beginning of pubarche and normal stature. Most of Temple syndrome signs were lacking. Provocative tests diagnosed incomplete growth hormone (GH) response and confirmed precocious puberty. One year treatment with recombinant human GH and gonadotropin-releasing hormone (GnRH) agonists proved successful, increasing height and arresting puberty. We recommend provocative tests for GH in UPD(14)mat as a GH deficiency can be hidden by a concurrent precocious puberty. Concomitant human GH and GnRH analogue treatment can be pursued.

scholarly journals Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

2009 ◽  
Vol 2009 (jul01 1) ◽  
pp. bcr0620091997-bcr0620091997 ◽  
Author(s):  
I K Temple ◽  
V Shrubb ◽  
M Lever ◽  
H Bullman ◽  
D J G Mackay
Keyword(s):  
Clinical Presentation ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Maternal Uniparental Disomy

scholarly journals Mice Lacking Paternally Expressed Pref-1/Dlk1 Display Growth Retardation and Accelerated Adiposity

2002 ◽  
Vol 22 (15) ◽  
pp. 5585-5592 ◽  
Author(s):  
Yang Soo Moon ◽  
Cynthia M. Smas ◽  
Kichoon Lee ◽  
Josep A. Villena ◽  
Kee-Hong Kim ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Growth Retardation ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Tissue Mass ◽  
Imprinted Gene ◽  
Maternal Uniparental Disomy ◽  
Skeletal Malformation

ABSTRACT Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally expressed imprinted gene at human chromosome 14q32. Studies on human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression of a yet-to-be-identified imprinted gene or genes present on chromosome 14 causes congenital disorders. We generated Pref-1 knockout mice to assess the role of Pref-1 in growth and in vivo adipogenesis and to determine the contribution of Pref-1 in mUPD. Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites. Furthermore, the phenotypes observed in Pref-1-null mice are present in heterozygotes that harbor a paternally inherited, but not in those with a maternally inherited pref-1-null allele. Our results demonstrate that Pref-1 is indeed paternally expressed and is important for normal development and for homeostasis of adipose tissue mass. We also suggest that Pref-1 is responsible for most of the symptoms observed in mouse mUPD12 and human mUPD14. Pref-1-null mice may be a model for obesity and other pathologies of human mUPD14.

scholarly journals Maternal Uniparental Disomy for Chromosome 14

1996 ◽  
Vol 45 (1-2) ◽  
pp. 169-172 ◽  
Author(s):  
D.A. Coviello ◽  
E. Panucci ◽  
M.M. Mantero ◽  
C. Perfumo ◽  
M. Guelfi ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
De Novo ◽  
Clinical Phenotype ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Motor Delay ◽  
Maternal Uniparental Disomy ◽  
Severe Scoliosis ◽  
Severe Hypotonia

AbstractA girl carrying a de novo balanced 13-14 robertsonian translocation showed a clinical phenotype with severe hypotonia, hyperextensible joints, frontal bossing, asymmetric face, no mental retardation, severe scoliosis and motor delay. In situ hybridization analysis on chromosome spreads revealed the presence of the two centromeres in the rearranged chromosomes. Molecular analysis on genomic DNA showed the presence in the proposita of two chromosomes 14 of maternal origin and no chromosome 14 from the father indicating a maternal monocentric uniparental disomy for chromosome 14 (mUPD14). Our patient shows several similarities with other reported cases of mUPD14, suggesting imprinting of a region(s) of chromosome 14 and defining a possible mUPD14 Syndrome.

Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype

1994 ◽  
Vol 94 (4) ◽  
pp. 355-358 ◽  
Author(s):  
Silvia Maria Sirchia ◽  
Chiara De Andreis ◽  
Sara Pariani ◽  
Maria Grazia Grimoldi ◽  
Anna Molinari ◽  
...  
Keyword(s):  
Cell Line ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Maternal Uniparental Disomy
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