Maternal uniparental disomy 14 in a 15‐year‐old boy with normal karyotype and no evidence of precocious puberty

Aretz, Stefan; Raff, Ruth; Woelfle, Joachim; Zerres, Klaus; Esser, Marianne; Propping, Peter; Eggermann, Thomas

doi:10.1002/ajmg.a.30755

Cited by 8 publications

(3 citation statements)

References 15 publications

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“…For example, although a relatively large number of patients with UPD(14)mat phenotype have been reported in the literature (reviewed in reference Hoffmann et al ), 10 we could identify only six UPD(14)mat patients with normal karyotype in whom maternal age at childbirth was documented and microsatellite analysis was performed. 25, 26, 27, 28, 29, 30 Furthermore, the microsatellite data are insufficient to identify the subtype of UPD(14)mat and to distinguish between M1 and M2 non-disjunction in the TR/GC subtype. Thus, while the maternal age at childbirth may be advanced in five patients with apparently TR/GC-mediated UPD(14)mat (27, 35, 37, 41, and 44 years) 25, 26, 27, 29, 30 (the maternal age at childbirth in the remaining one patient with apparently MR/PE-mediated UPD(14)mat is 40 years), 28 the notion of a maternal age effect awaits further investigations for UPD(14)mat.…”

Section: Discussionmentioning

confidence: 99%

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

et al. 2012

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Paternal uniparental disomy 14 (UPD(14)pat) results in a unique constellation of clinical features, and a similar phenotypic constellation is also caused by microdeletions involving the DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and/or the MEG3-DMR and by epimutations (hypermethylations) affecting the DMRs. However, relative frequency of such underlying genetic causes remains to be clarified, as well as that of underlying mechanisms of UPD(14)pat, that is, trisomy rescue (TR), gamete complementation (GC), monosomy rescue (MR), and post-fertilization mitotic error (PE). To examine this matter, we sequentially performed methylation analysis, microsatellite analysis, fluorescence in situ hybridization, and array-based comparative genomic hybridization in 26 patients with UPD(14)pat-like phenotype. Consequently, we identified UPD(14)pat in 17 patients (65.4%), microdeletions of different patterns in 5 patients (19.2%), and epimutations in 4 patients (15.4%). Furthermore, UPD(14)pat was found to be generated through TR or GC in 5 patients (29.4%), MR or PE in 11 patients (64.7%), and PE in 1 patient (5.9%). Advanced maternal age at childbirth (≥35 years) was predominantly observed in the MR/PE subtype. The results imply that the relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype is different from that of other imprinting disorders, and that advanced maternal age at childbirth as a predisposing factor for the generation of nullisomic oocytes through non-disjunction at meiosis 1 may be involved in the development of MR-mediated UPD(14)pat.

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Section: Discussionmentioning

confidence: 99%

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

et al. 2012

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“…Characteristic signs of the paternal UPD of chromosome 14 include polhydramnios, abdominal muscular defects, characteristic facies (plagiocephaly, short palpebral fissures, epicanthal folds, flat nasal root, anterverted nares, long philtrum, small mouth, redundant nuchal skin folds, inverted nipples and hypotonia) and specific thoracic dystrophy [31]. The clinical features of maternal UPD consist in pre-and postnatal growth retardation, neonatal hypotonia, feeding problems, precocious puberty, truncal obesity and development delay [2,4]. In the patients with 14q deletion reported in literature, the UPD for the chromosome 14 has been checked only in 10 patients.…”

Section: Discussionmentioning

confidence: 97%

Array CGH defined interstitial deletion on chromosome 14: a new case

et al. 2010

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Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.

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“…Polyhydramnios, abdominal muscular defects, characteristic facies (plagiocephaly, short palpebral fissures, epicanthal folds, flat nasal root, anteverted nares, long philtrum, small mouth, redundant nuchal skin folds, inverted nipples, hypotonia), specific thoracic dystrophy, typical of paternal UDP14 were not present in the fetus [Stevenson et al, 2004]. Likewise, short stature that is typical of maternal UDP was also absent [Aretz et al, 2005]. Neonatal transient hydrocephalus is often associated with maternal UDP but, in this case, it is a spontaneously arrested hydrocephalus.…”

Section: Discussionmentioning

confidence: 99%

Sex reversal from functional disomy of Xp: Prenatal and post‐mortem findings

Piccione

Maresi

Zollino

et al. 2008

American J of Med Genetics Pt A

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Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledge, this is the first description of an XY fetus with a pure duplication of the entire short arm of X chromosome.

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Maternal uniparental disomy 14 in a 15‐year‐old boy with normal karyotype and no evidence of precocious puberty

Cited by 8 publications

References 15 publications

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

Array CGH defined interstitial deletion on chromosome 14: a new case

Sex reversal from functional disomy of Xp: Prenatal and post‐mortem findings

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