Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2)

Heidemann, Simone; Plendl, Hansjörg; Vater, Inga; Gesk, Stefan; Exeler-Telker, J. R; Grote, W.; Siebert, R; Caliebe, Almuth

doi:10.1002/pd.2436

Cited by 5 publications

(3 citation statements)

References 14 publications

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“…maternal disomy 15 in PWS). Heidemann et al also reported a rare fetus with PWS resulting from a balanced familial translocation involving chromosomes 2 and 15 leading to maternal disomy 15. The mother was found to be a carrier of the cytogenetically identical balanced translocation involving chromosomes 2 and 15 at the 15q11.2 band.…”

Section: Resultsmentioning

confidence: 99%

Benefits and limitations of prenatal screening for Prader–Willi syndrome

Butler

2016

Prenatal Diagnosis

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This review the status of genetic laboratory testing in Prader-Willi syndrome (PWS) due to different genetic subtypes, most often a paternally derived 15q11-q13 deletion, with benefits and limitations related to prenatal screening. Medical literature was searched for prenatal screening and genetic laboratory testing methods in use or under development and discussed in relationship to PWS. Genetic testing includes six established laboratory diagnostic approaches for PWS with direct application to prenatal screening. Ultrasonographic, obstetric and cytogenetic reports were summarized in relationship to the cause of Prader-Willi syndrome and identification of specific genetic subtypes including maternal disomy 15. Advances in genetic technology were described for diagnosing PWS specifically DNA methylation and high-resolution chromosomal SNP microarrays as current tools for genetic screening and incorporating next generation DNA sequencing for noninvasive prenatal testing (NIPT) using cell-free fetal DNA. Positive experiences are reported with NIPT for detection of numerical chromosomal problems (aneuploidies) but not for structural problems (microdeletions). These reports will be discussed along with future directions for genetic screening of PWS. In summary, this review describes and discusses the status of established and ongoing genetic testing options for PWS applicable in prenatal screening including NIPT and future directions for early diagnosis in Prader-Willi syndrome.

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Section: Resultsmentioning

confidence: 99%

Benefits and limitations of prenatal screening for Prader–Willi syndrome

Butler

2016

Prenatal Diagnosis

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“…Heidemann et al [2010] summarized 14 individuals with PWS having chromosome translocations but only one case involved chromosomes 15 and 19 [Sun et al, 1996]. This case described a male child with the PWS phenotype due to a de novo balanced translocation between chromosomes 15 and 19 involving the PWS critical region on chromosome 15 and the long arm of chromosome 19 and not the short arm as seen in our patient.…”

Section: Resultsmentioning

confidence: 64%

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3)

Dang

Surampalli

Manzardo

et al. 2016

Cytogenet Genome Res

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Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. High-resolution SNP microarray analysis identified an atypical PWS type I deletion in chromosome 15 involving the proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11q13 region, and GABRA5, GABRG3, and OCA2 genes were intact. No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene.

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“…In addition, based on the homozygosity or heterozygosity of polymorphic alleles inherited from the parent, uniparental disomy (UPD) can be classified into isodisomy and heterodisomy. Notably, balanced familial translocationincreases the risk of fetal UPD [38]. Human chromosome 14q32.2 carries a number of imprinted genes such as delta-like non-canonical Notch ligand 1 (DLK1), retrotransposon-like 1 (RTL1), and Deiodinase, iodothyronine, type III (DIO3).…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

Sha

Zhai

et al. 2020

Mol Cytogenet

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Objective: This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound. Methods: The chromosome rearrangements in the fetus were characterized by G-banding and chromosome microarray analysis based on single nucleotide polymorphism (SNP) array of cultured amniocytes and compared with the parents' karyotypes. Results: The fetal abnormal karyotype was 47,XY,+der(14)(9;14)(p23;q22). The SNP array revealed a duplicate 11.8-Mb 9p23-p24.3 fragment and a duplicate 29.6-Mb 14q11.2-q21.3 fragment. The peripheral blood karyotype of the mother was 46,XX,t(9;14)(p23;q22), while the father's was normal at the level of 300~400 bands. A high-resolution karyotype analysis conformed the same abnormality of the mother at the level of 550~650 bands. These results indicated that the fetal chromosomal abnormality probably derived from the mother. The fetal nuchal translucency thickness was 3.5 mm, and the fetal heart was detected with around 1.0-mm ventricular defect by the ultrasound examination at 12-week gestation. The couple decided to terminate the pregnancy. They opted for in vitro fertilization and embryo transfer for the fourth pregnancy, which was successful. Conclusions: The SNP array combined with cytogenetic analysis was particularly effective in identifying abnormal chromosomal rearrangements. These methods combined with the existing database information and fetal ultrasonography might provide a comprehensive and efficient way for the prenatal assessment of fetal situations. Preimplantation genetic diagnosis might effectively assist those women with an adverse pregnancy history in their next pregnancy.

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Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2)

Cited by 5 publications

References 14 publications

Benefits and limitations of prenatal screening for Prader–Willi syndrome

Benefits and limitations of prenatal screening for Prader–Willi syndrome

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3)

Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

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