Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review

Genet Couns. 2011;22(3):263-72.


We report on a preterm neonate with a deletion of the distal long arm of chromosome 13q32.1 and partial trisomy of the short arm of chromosome 10p12.33. The patient has intrauterine growth retardation, microphthalmia, macrocephaly, holoprosencephaly, patent ductus arteriosus, aortic isthmus hypoplasia, right renal agenesis, imperforate anus, ambiguous genitalia, pleural effusion and vertebral anomaly. Analysis using an oligonucleotide microarray (U-array Cyto6000 array platform (Human Genome build: hg 18) indicated that there was a partial trisomy of chromosome 10(19.5 Mb gain) involving 298 oligonucleotides from 10pter to 10p12.33, and a partial monosomy of chromosome 13(18.3 Mb deleted) involving 313 oligonucleotides from 13q32.1 to 13qter. This is the first report of a patient with partial trisomy 10p12.33 and partial monosomy 13q32.1.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Anus, Imperforate / genetics*
  • Chromosome Deletion*
  • Chromosome Disorders*
  • Chromosomes, Human, Pair 10
  • Chromosomes, Human, Pair 13
  • Disorders of Sex Development / genetics*
  • Fatal Outcome
  • Female
  • Fetal Growth Retardation / genetics
  • Holoprosencephaly / genetics*
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Pleural Effusion / congenital
  • Syndrome
  • Trisomy*

Supplementary concepts

  • Chromosome 10, trisomy 10p
  • Deletion 13q syndrome, partial