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 Velagaleti

Research output: Contribution to journalArticle

14 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)136-140
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume139 A
Issue number2
DOIs
StatePublished - 2005
Externally publishedYes

Fingerprint

Macrostomia
Chromosome Deletion
Live Birth
Eyelids
Incisor
Attention Deficit Disorder with Hyperactivity
Nose
Cytogenetics
Ear
Phenotype

Keywords

  • Chromosome 1p36
  • Deletion
  • Duplication
  • Dysmorphism
  • FISH

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33) dup(1)(p36.33p36.22) with variable phenotype. / Tonk, Vijay S.; Wilson, Golder N.; Yatsenko, Svetlana A.; Stankiewicz, Pawel; Lupski, James R.; Schutt, Robert C.; Northup, J. K.; Velagaleti, Gopalrao V.

In: American Journal of Medical Genetics, Part A, Vol. 139 A, No. 2, 2005, p. 136-140.

Research output: Contribution to journalArticle

Tonk, Vijay S. ; Wilson, Golder N. ; Yatsenko, Svetlana A. ; Stankiewicz, Pawel ; Lupski, James R. ; Schutt, Robert C. ; Northup, J. K. ; Velagaleti, Gopalrao V. / Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33) dup(1)(p36.33p36.22) with variable phenotype. In: American Journal of Medical Genetics, Part A. 2005 ; Vol. 139 A, No. 2. pp. 136-140.
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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

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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.

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