Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation

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Abstract

Interstitial deletions of the long arm of chromosome 4 are rare. The deletions may occur at the proximal or the distal portions of the chromosome and different breakpoints may be involved. We report an interstitial deletion of 4q: 46XY der 4 (q28;q35) in a six-year-old boy with dysmorphic features associated with moderate mental retardation. Parental chromosomal analysis showed a balanced paternal translocation.

Original languageEnglish
JournalSingapore Medical Journal
Volume49
Issue number11
Publication statusPublished - Nov 2008

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Chromosome Breakpoints
Intellectual Disability
Chromosome 4q- Syndrome

Keywords

  • 4q interstitial deletion
  • Chromosome abnormality
  • Intersitial deletion
  • Mental retardation
  • Paternal dislocation
  • Short stature

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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title = "Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation",
abstract = "Interstitial deletions of the long arm of chromosome 4 are rare. The deletions may occur at the proximal or the distal portions of the chromosome and different breakpoints may be involved. We report an interstitial deletion of 4q: 46XY der 4 (q28;q35) in a six-year-old boy with dysmorphic features associated with moderate mental retardation. Parental chromosomal analysis showed a balanced paternal translocation.",
keywords = "4q interstitial deletion, Chromosome abnormality, Intersitial deletion, Mental retardation, Paternal dislocation, Short stature",
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journal = "Singapore Medical Journal",
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T1 - Interstitial deletion of the distal long arm of chromosome 4, del (4)(q33-q35), in association with paternal balanced translocation

AU - Md Zain, Reena Rahayu

AU - Ko, C.

AU - Abdul Latiff, Zarina

AU - Zakaria, Z.

PY - 2008/11

Y1 - 2008/11

N2 - Interstitial deletions of the long arm of chromosome 4 are rare. The deletions may occur at the proximal or the distal portions of the chromosome and different breakpoints may be involved. We report an interstitial deletion of 4q: 46XY der 4 (q28;q35) in a six-year-old boy with dysmorphic features associated with moderate mental retardation. Parental chromosomal analysis showed a balanced paternal translocation.

AB - Interstitial deletions of the long arm of chromosome 4 are rare. The deletions may occur at the proximal or the distal portions of the chromosome and different breakpoints may be involved. We report an interstitial deletion of 4q: 46XY der 4 (q28;q35) in a six-year-old boy with dysmorphic features associated with moderate mental retardation. Parental chromosomal analysis showed a balanced paternal translocation.

KW - 4q interstitial deletion

KW - Chromosome abnormality

KW - Intersitial deletion

KW - Mental retardation

KW - Paternal dislocation

KW - Short stature

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