Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings

VanLandingham, M; Nguyen, TV; Abdul-Rahman, OA; Parent, A; Zhang, J

Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings

VanLandingham, M Nguyen, TV

Abdul-Rahman, OA Parent, A Zhang, J

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Publication Type:: Journal Article
Citation:: Neurological Sciences, 2008, 29 (6), pp. 467 - 470
Issue Date:: 2008-12-01

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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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http://hdl.handle.net/10453/29316