Maternal uniparental isodisomy 11q13right-arrowqter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13right-arrowqter

Kotzot, Dieter

doi:10.1136/jmg.38.12.876

Cited by 5 publications

(3 citation statements)

References 9 publications

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“…Mosaic full paternal UPD11 has been associated with severe IUGR (14) and a single case of mosaic full paternal UPD11 has been seen with typical BWS (15). Mosaic segmental maternal UPD11 for 11q13‐>qter has been reported in a single case complicated by mosaic trisomy of the same chromosome segment (16). In addition, chromosome 11p15 abnormalities involving methylation defects and maternal duplications have been reported in approximately 40% (17) to 64% (18, 19) of SRS patients.…”

Section: Clinically Significant Upd Phenotypesmentioning

confidence: 99%

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

et al. 2010

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The aim of this statement is to provide clinicians, cytogeneticists and molecular geneticists of the Canadian College of Medical Geneticists (CCMG) a comprehensive review of the role of UPD in constitutional genetic diagnosis and to provide a guideline as to when investigation for UPD is recommended. Members of the CCMG Cytogenetics, Molecular Genetics, Clinical Practice, and Prenatal Diagnosis committees reviewed the relevant literature on uniparental disomy (UPD) in constitutional genetic diagnosis (May 2010). Guidelines were developed for UPD testing in Canada. The guidelines were circulated for comment to the CCMG members at large and following appropriate modification, approved by the CCMG Board of Directors (July 2010).

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Section: Clinically Significant Upd Phenotypesmentioning

confidence: 99%

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

et al. 2010

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“…Liveborn children with trisomy 11q13 → qter have been observed. [24][25][26] However, Brewer et al 45 after analysis of data from Human Cytogenetics Database, proposed that band 11q12 is haploand triplolethal. Thus, the presence of 11q12.2 → qter in double segment imbalances likely contributes to limited survival at birth.…”

Section: Discussionmentioning

confidence: 97%

“…11,[19][20][21][22][23] Similarly, a shorter segment involving 11q13 → qter band found in a RCT has been observed. [24][25][26] Meiotic segregation pattern To identify the various possible genetic imbalances that can be produced by carriers of chromosomal translocations, the meiotic segregation patterns in sperm cells can be evaluated. To date, the meiotic segregation patterns in sperm cells from 4200 different RCTs have been studied.…”

Section: Discussionmentioning

confidence: 99%

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

et al. 2014

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Cumulative data obtained from two relatively large pedigrees of a unique reciprocal chromosomal translocation (RCT) t(1;11)(p36.22;q12.2) ascertained by three miscarriages (pedigree 1) and the birth of newborn with hydrocephalus and myelomeningocele (pedigree 2) were used to estimate recurrence risks for different pregnancy outcomes. Submicroscopic molecular characterization by fluorescent in situ hybridization (FISH) of RCT break points in representative carriers showed similar rearrangements in both families. Meiotic segregation patterns after sperm analysis by three-color FISH of one male carrier showed all possible outcomes resulting from 2:2 and 3:1 segregations. On the basis of empirical survival data, we suggest that only one form of chromosome imbalance resulting in monosomy 1p36.22→pter with trisomy 11q12.2→qter may be observed in progeny at birth. Segregation analysis of these pedigrees was performed by the indirect method of Stengel-Rutkowski and showed that probability rate for malformed child at birth due to an unbalanced karyotype was 3/48 (6.2±3.5%) after ascertainment correction. The risk for stillbirths/early neonatal deaths was -/48 (<1.1%) and for miscarriages was 17/48 (35.4±6.9%). However, the probability rate for children with a normal phenotype at birth was 28/48 (58.3±7.1%). The results obtained from this study may be used to determine the risks for the various pregnancy outcomes for carriers of t(1;11)(p36.22;q12.2) and can be used for genetic counseling of carriers of this rearrangement.

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A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

2006

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Maternal uniparental isodisomy 11q13right-arrowqter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13right-arrowqter

Cited by 5 publications

References 9 publications

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

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