Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization

Mol Med Rep. 2017 Dec;16(6):8808-8818. doi: 10.3892/mmr.2017.7760. Epub 2017 Oct 10.

Abstract

Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the present study. The first patient was a 10‑year‑old boy with mild developmental delay and minor congenital anomalies (borderline microcephaly, clinodactyly, hypertelorism, epicanthus, mild systolic murmur and kidney reflux). The second patient was a 3 year‑old girl with developmental delay, gross motor milestone delay and dysmorphic features. Array‑comparative genomic hybridization analysis revealed that partial chromosome 8p monosomy extended from 8p23.2 to 8pter (4.8 Mb) in Patient 1 and from 8p23.1 to 8pter (9.5 Mb) in Patient 2, and partial chromosome 16 trisomy extended from 16q23.3 to 16qter (5.6 Mb) in Patient 1 and from 16q23.1 to 16qter (11.7 Mb) in Patient 2. The mechanism of appearance of the rearrangement in association with the genes involved and the architecture of the region is discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 8
  • Comparative Genomic Hybridization*
  • Computational Biology / methods
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics*
  • Echocardiography
  • Gene Dosage
  • Genetic Association Studies*
  • Genetic Variation
  • Humans
  • Male
  • Microsatellite Repeats / genetics
  • Phenotype
  • Trisomy*

Supplementary concepts

  • Chromosome 16, trisomy 16q
  • Chromosome 8, monosomy 8p