Prenatal diagnosis of a large <i>de novo</i> terminal deletion of chromosome 11q

Boehm, Diana; Laccone, Franco; Burfeind, Peter; Herold, Sabine; Schubert, Cornelia; Zoll, Barbara; Männer, Jörg; Pauer, Hans-Ulrich; Bartels, Iris

doi:10.1002/pd.1408

Cited by 15 publications

(1 citation statement)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Prenatal diagnosis of Jacobsen syndrome has been reported in the literature, but to our knowledge this is the first case where no structural disorder could be identified in the second trimester scan, not even in the detailed scan performed at the time of feticide [5,6].…”

Section: Issn: 2377-9004mentioning

confidence: 81%

Termination of Pregnancy for an 11q Terminal Deletion Incidentally Diagnosed Prenatally; Jacobsen Syndrome Penetrance and Ethical Dilemmas

Makrydima¹

2016

Obstet Gynecol Cases Rev

View full text Add to dashboard Cite

The currently noted boost of de novo microdeletions has been partly attributed to the relevant increase of mean paternal age at the time of first child acquisition. The simultaneous widespread implementation of molecular techniques for prenatal karyotyping has revealed distinct deletion aberrations of uncertain clinical significance. Recent research has failed to confirm the intrinsic correlation between implicated genome fragment and extent of phenotypic abnormality. We present a case of an 11q terminal deletion detected incidentally in a fetus displaying no evidence of anomaly during successive detailed ultrasound anatomy scans. The genotype corresponds to Jacobsen syndrome exhibiting great heterogeneity attributed to epigenetic modifications. For example, homeostatic mechanisms at the level of transcription or translation can mitigate the phenotypic effects of a deletion. However, unmasking of a recessive mutation on the non-deleted homologous chromosome can amplify phenotypic abnormalities. Genetic counselling is a priori considered as a challenging process taking into consideration that the spectrum of normal is subjectively defined by the personal perspectives of the individual. Undoubtedly, it becomes even more demanding if no tangible deformity can be depicted. Reporting bias lurks when genetic consultation is mainly based on previously recorded phenotypes, since less affected persons are unlikely to be detected.

show abstract

Section: Issn: 2377-9004mentioning

confidence: 81%

Termination of Pregnancy for an 11q Terminal Deletion Incidentally Diagnosed Prenatally; Jacobsen Syndrome Penetrance and Ethical Dilemmas

Makrydima¹

2016

Obstet Gynecol Cases Rev

View full text Add to dashboard Cite

show abstract

Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

Benn

2015

Genetic Disorders and the Fetus

View full text Add to dashboard Cite

Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

Benn¹

2021

Genetic Disorders and the Fetus

View full text Add to dashboard Cite

Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q

Abstract: Our case demonstrates significant phenotypic variability of Jacobsen syndrome at midtrimester pregnancy; the syndrome may be manifested at this stage only by mild to moderate ventriculomegaly of the brain.

Cited by 15 publications

References 11 publications

Termination of Pregnancy for an 11q Terminal Deletion Incidentally Diagnosed Prenatally; Jacobsen Syndrome Penetrance and Ethical Dilemmas

Termination of Pregnancy for an 11q Terminal Deletion Incidentally Diagnosed Prenatally; Jacobsen Syndrome Penetrance and Ethical Dilemmas

Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

Contact Info

Product

Resources

About