Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings
- Publication Type:
- Journal Article
- Citation:
- Neurological Sciences, 2008, 29 (6), pp. 467 - 470
- Issue Date:
- 2008-12-01
Closed Access
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2013005878OK.pdf | 78.61 kB | Adobe PDF |
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Full metadata record
Field | Value | Language |
---|---|---|
dc.contributor.author | VanLandingham, M | en_US |
dc.contributor.author |
Nguyen, TV https://orcid.org/0000-0002-3246-6281 |
en_US |
dc.contributor.author | Abdul-Rahman, OA | en_US |
dc.contributor.author | Parent, A | en_US |
dc.contributor.author | Zhang, J | en_US |
dc.date.available | 2008-08-28 | en_US |
dc.date.issued | 2008-12-01 | en_US |
dc.identifier.citation | Neurological Sciences, 2008, 29 (6), pp. 467 - 470 | en_US |
dc.identifier.issn | 1590-1874 | en_US |
dc.identifier.uri | http://hdl.handle.net/10453/29316 | |
dc.description.abstract | In this case report, we describe two siblings with a previously unreported partial monosomy 4q and partial trisomy 9q. The sibling karyotypes were determined to be 46,XX,der(4)t(4;9)(q33;q33)pat and 46,XY,der(4)t(4;9)-(q33;q33)pat. The siblings share several common pathological features, including VSD, PDA, low-set ears and digit anomalies as well as features consistent with Pierre-Robin syndrome and hydrocephalus. We review previously reported phenotypes associated with monosomy 4q and partial trisomy 9q and discuss potential mechanisms for these morphological insults with particular emphasis on neuropathology. © Springer-Verlag 2008. | en_US |
dc.relation.ispartof | Neurological Sciences | en_US |
dc.relation.isbasedon | 10.1007/s10072-008-1016-0 | en_US |
dc.subject.classification | Neurology & Neurosurgery | en_US |
dc.subject.mesh | Brain | en_US |
dc.subject.mesh | Chromosomes, Human, Pair 4 | en_US |
dc.subject.mesh | Chromosomes, Human, Pair 9 | en_US |
dc.subject.mesh | Branchial Region | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Respiratory Insufficiency | en_US |
dc.subject.mesh | Hydrocephalus | en_US |
dc.subject.mesh | Nervous System Malformations | en_US |
dc.subject.mesh | Chromosome Aberrations | en_US |
dc.subject.mesh | Monosomy | en_US |
dc.subject.mesh | Trisomy | en_US |
dc.subject.mesh | Syndrome | en_US |
dc.subject.mesh | Radiography | en_US |
dc.subject.mesh | Fatal Outcome | en_US |
dc.subject.mesh | DNA Mutational Analysis | en_US |
dc.subject.mesh | Siblings | en_US |
dc.subject.mesh | Phenotype | en_US |
dc.subject.mesh | Infant | en_US |
dc.subject.mesh | Infant, Newborn | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Congenital Abnormalities | en_US |
dc.title | Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings | en_US |
dc.type | Journal Article | |
utslib.citation.volume | 6 | en_US |
utslib.citation.volume | 29 | en_US |
utslib.for | 1109 Neurosciences | en_US |
utslib.for | 1103 Clinical Sciences | en_US |
pubs.embargo.period | Not known | en_US |
pubs.organisational-group | /University of Technology Sydney | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Engineering and Information Technology | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Engineering and Information Technology/School of Biomedical Engineering | |
pubs.organisational-group | /University of Technology Sydney/Strength - CHT - Health Technologies | |
utslib.copyright.status | closed_access | |
pubs.issue | 6 | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 29 | en_US |
Abstract:
In this case report, we describe two siblings with a previously unreported partial monosomy 4q and partial trisomy 9q. The sibling karyotypes were determined to be 46,XX,der(4)t(4;9)(q33;q33)pat and 46,XY,der(4)t(4;9)-(q33;q33)pat. The siblings share several common pathological features, including VSD, PDA, low-set ears and digit anomalies as well as features consistent with Pierre-Robin syndrome and hydrocephalus. We review previously reported phenotypes associated with monosomy 4q and partial trisomy 9q and discuss potential mechanisms for these morphological insults with particular emphasis on neuropathology. © Springer-Verlag 2008.
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