Further contribution to the description of phenotypes associated with partial 4q duplication

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38 Citazioni (Scopus)

Abstract

We report on a 15-year-old girl with a previously undescribed de novo duplication of segment 4q13.1-->q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial 4q trisomy led us to identify a region comprising bands 4q22-q23, which may be involved in the development of the acrorenal field.
Lingua originaleEnglish
pagine (da-a)69-73
Numero di pagine5
RivistaAmerican Journal of Medical Genetics
Volume57
DOI
Stato di pubblicazionePubblicato - 1995

Keywords

  • Abnormalities, Multiple
  • Adolescent
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4
  • Dermatoglyphics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Phenotype
  • Trisomy

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