Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33) dup(1)(p36.33p36.22) with variable phenotype

Vijay S. Tonk; Golder N. Wilson; Svetlana A. Yatsenko; Pawel Stankiewicz; James R. Lupski; Robert C. Schutt; J. K. Northup; Gopalrao V.N. Velagaleti

doi:10.1002/ajmg.a.30958

Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33) dup(1)(p36.33p36.22) with variable phenotype

Vijay S. Tonk, Golder N. Wilson, Svetlana A. Yatsenko, Pawel Stankiewicz, James R. Lupski, Robert C. Schutt, J. K. Northup, Gopalrao V.N. Velagaleti

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

17 Scopus citations

Abstract

Chromosome deletions involving 1p36 are the most common known terminal rearrangements occurring at a frequency of ∼1 in 5,000 live births. In contrast, duplications of the same region have been reported rarely. We describe a familial rearrangement der(1)del(1)(p36.33) dup(1)(p36.33p36.22) identified in a mother, daughter, and son. These individuals help define a syndrome with variable mental disability, attention deficit-hyperactivity disorder, and a distinctive facial appearance with wide palpebral fissures, broad nasal root, macrostomia, ear malformations, and prominent incisors. Based on our results we suggest that the complex rearrangement seen in our family could be the result of the breakage-fusion-bridge (BFB) cycles model of formation.

Original language	English (US)
Pages (from-to)	136-140
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	139 A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.30958
State	Published - 2005
Externally published	Yes

Keywords

Chromosome 1p36
Deletion
Duplication
Dysmorphism
FISH

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1002/ajmg.a.30958

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title = "Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33) dup(1)(p36.33p36.22) with variable phenotype",

abstract = "Chromosome deletions involving 1p36 are the most common known terminal rearrangements occurring at a frequency of ∼1 in 5,000 live births. In contrast, duplications of the same region have been reported rarely. We describe a familial rearrangement der(1)del(1)(p36.33) dup(1)(p36.33p36.22) identified in a mother, daughter, and son. These individuals help define a syndrome with variable mental disability, attention deficit-hyperactivity disorder, and a distinctive facial appearance with wide palpebral fissures, broad nasal root, macrostomia, ear malformations, and prominent incisors. Based on our results we suggest that the complex rearrangement seen in our family could be the result of the breakage-fusion-bridge (BFB) cycles model of formation.",

keywords = "Chromosome 1p36, Deletion, Duplication, Dysmorphism, FISH",

author = "Tonk, {Vijay S.} and Wilson, {Golder N.} and Yatsenko, {Svetlana A.} and Pawel Stankiewicz and Lupski, {James R.} and Schutt, {Robert C.} and Northup, {J. K.} and Velagaleti, {Gopalrao V.N.}",

year = "2005",

doi = "10.1002/ajmg.a.30958",

language = "English (US)",

volume = "139 A",

pages = "136--140",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "2",

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TY - JOUR

T1 - Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33) dup(1)(p36.33p36.22) with variable phenotype

AU - Tonk, Vijay S.

AU - Wilson, Golder N.

AU - Yatsenko, Svetlana A.

AU - Stankiewicz, Pawel

AU - Lupski, James R.

AU - Schutt, Robert C.

AU - Northup, J. K.

AU - Velagaleti, Gopalrao V.N.

PY - 2005

Y1 - 2005

N2 - Chromosome deletions involving 1p36 are the most common known terminal rearrangements occurring at a frequency of ∼1 in 5,000 live births. In contrast, duplications of the same region have been reported rarely. We describe a familial rearrangement der(1)del(1)(p36.33) dup(1)(p36.33p36.22) identified in a mother, daughter, and son. These individuals help define a syndrome with variable mental disability, attention deficit-hyperactivity disorder, and a distinctive facial appearance with wide palpebral fissures, broad nasal root, macrostomia, ear malformations, and prominent incisors. Based on our results we suggest that the complex rearrangement seen in our family could be the result of the breakage-fusion-bridge (BFB) cycles model of formation.

AB - Chromosome deletions involving 1p36 are the most common known terminal rearrangements occurring at a frequency of ∼1 in 5,000 live births. In contrast, duplications of the same region have been reported rarely. We describe a familial rearrangement der(1)del(1)(p36.33) dup(1)(p36.33p36.22) identified in a mother, daughter, and son. These individuals help define a syndrome with variable mental disability, attention deficit-hyperactivity disorder, and a distinctive facial appearance with wide palpebral fissures, broad nasal root, macrostomia, ear malformations, and prominent incisors. Based on our results we suggest that the complex rearrangement seen in our family could be the result of the breakage-fusion-bridge (BFB) cycles model of formation.

KW - Chromosome 1p36

KW - Deletion

KW - Duplication

KW - Dysmorphism

KW - FISH

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DO - 10.1002/ajmg.a.30958

M3 - Article

C2 - 16278888

AN - SCOPUS:33645851077

SN - 1552-4825

VL - 139 A

SP - 136

EP - 140

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 2

ER -

Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33) dup(1)(p36.33p36.22) with variable phenotype

Abstract

Keywords

ASJC Scopus subject areas

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