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

Matthew VanLandingham; Tuan V. Nguyen; Omar A. Abdul-Rahman; Andrew Parent; Jun Zhang

doi:10.1007/s10072-008-1016-0

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

Matthew VanLandingham, Tuan V. Nguyen, Omar A. Abdul-Rahman, Andrew Parent, Jun Zhang

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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.

Original language	English (US)
Pages (from-to)	467-470
Number of pages	4
Journal	Neurological Sciences
Volume	29
Issue number	6
DOIs	https://doi.org/10.1007/s10072-008-1016-0
State	Published - 2008
Externally published	Yes

Keywords

Genetic locus
Hydrocephalus
Partial trisomy 9

ASJC Scopus subject areas

Dermatology
Clinical Neurology
Psychiatry and Mental health

Access to Document

10.1007/s10072-008-1016-0

Cite this

@article{8fbcb5a03bb04091ad22b82513dac522,

title = "Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings",

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.",

keywords = "Genetic locus, Hydrocephalus, Partial trisomy 9",

author = "Matthew VanLandingham and Nguyen, {Tuan V.} and Abdul-Rahman, {Omar A.} and Andrew Parent and Jun Zhang",

year = "2008",

doi = "10.1007/s10072-008-1016-0",

language = "English (US)",

volume = "29",

pages = "467--470",

journal = "Neurological Sciences",

issn = "1590-1874",

publisher = "Springer-Verlag Italia s.r.l.",

number = "6",

}

TY - JOUR

T1 - Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings

AU - VanLandingham, Matthew

AU - Nguyen, Tuan V.

AU - Abdul-Rahman, Omar A.

AU - Parent, Andrew

AU - Zhang, Jun

PY - 2008

Y1 - 2008

N2 - 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.

AB - 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.

KW - Genetic locus

KW - Hydrocephalus

KW - Partial trisomy 9

UR - http://www.scopus.com/inward/record.url?scp=58149087853&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=58149087853&partnerID=8YFLogxK

U2 - 10.1007/s10072-008-1016-0

DO - 10.1007/s10072-008-1016-0

M3 - Article

C2 - 19039519

AN - SCOPUS:58149087853

SN - 1590-1874

VL - 29

SP - 467

EP - 470

JO - Neurological Sciences

JF - Neurological Sciences

IS - 6

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this