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Genotype/phenotype correlations in two patients with 12q subtelomere deletions.

Publication ,  Journal Article
Niyazov, DM; Nawaz, Z; Justice, AN; Toriello, HV; Martin, CL; Adam, MP
Published in: Am J Med Genet A
November 15, 2007

Subtelomeric imbalances have been implicated in developmental delay and mental retardation (MR) and described for most chromosomes. This study reports the first detailed description of two individuals with de novo 12q subtelomere deletions and high-resolution mapping of their deletion size with oligonucleotide array CGH for genotype/phenotype comparisons. Patient 1 is an 8-year-old male with borderline mild MR, food-seeking behavior, obesity, no significant dysmorphic facial features, abnormal hair whorl pattern, brachydactyly and mild clinodactyly. Patient 2 is a 12-year-old male with mild MR, food-seeking behavior, obesity, short stature, mild dysmorphic facial features, multicystic kidney and unilateral cryptorchidism. Both patients share a deleted region of approximately 1.6 Mb, including 14 known genes, which perhaps contributed to their similar phenotypes. However, Patient 2 has more severe MR and organ system involvement, possibly due to the larger deletion size ( approximately 4.5 Mb) including an additional eight genes, although it is difficult to make phenotype/genotype correlations based on only two patients. Due to the relatively mild presentation of both of our patients, we propose that a proportion of individuals with subtelomeric imbalances may go undetected and therefore, recommend subtelomeric studies be carried out for cases of unexplained mild MR or isolated learning disability (LD) with behavioral problems in the absence of major dysmorphic features or birth defects. In addition, 12q subtelomeric deletions should be considered in the differential diagnosis of patients presenting with food-seeking behavior and resultant obesity, as well as those referred to rule out Prader-Willi syndrome.

Duke Scholars

Published In

Am J Med Genet A

DOI

ISSN

1552-4825

Publication Date

November 15, 2007

Volume

143A

Issue

22

Start / End Page

2700 / 2705

Location

United States

Related Subject Headings

  • Telomere
  • Prader-Willi Syndrome
  • Phenotype
  • Male
  • Intellectual Disability
  • Humans
  • Genotype
  • Feeding and Eating Disorders of Childhood
  • Chromosomes, Human, Pair 12
  • Chromosome Deletion
 

Citation

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Niyazov, D. M., Nawaz, Z., Justice, A. N., Toriello, H. V., Martin, C. L., & Adam, M. P. (2007). Genotype/phenotype correlations in two patients with 12q subtelomere deletions. Am J Med Genet A, 143A(22), 2700–2705. https://doi.org/10.1002/ajmg.a.32005
Niyazov, Dmitriy M., Zafar Nawaz, April N. Justice, Helga V. Toriello, Christa Lese Martin, and Margaret P. Adam. “Genotype/phenotype correlations in two patients with 12q subtelomere deletions.Am J Med Genet A 143A, no. 22 (November 15, 2007): 2700–2705. https://doi.org/10.1002/ajmg.a.32005.
Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP. Genotype/phenotype correlations in two patients with 12q subtelomere deletions. Am J Med Genet A. 2007 Nov 15;143A(22):2700–5.
Niyazov, Dmitriy M., et al. “Genotype/phenotype correlations in two patients with 12q subtelomere deletions.Am J Med Genet A, vol. 143A, no. 22, Nov. 2007, pp. 2700–05. Pubmed, doi:10.1002/ajmg.a.32005.
Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP. Genotype/phenotype correlations in two patients with 12q subtelomere deletions. Am J Med Genet A. 2007 Nov 15;143A(22):2700–2705.
Journal cover image

Published In

Am J Med Genet A

DOI

ISSN

1552-4825

Publication Date

November 15, 2007

Volume

143A

Issue

22

Start / End Page

2700 / 2705

Location

United States

Related Subject Headings

  • Telomere
  • Prader-Willi Syndrome
  • Phenotype
  • Male
  • Intellectual Disability
  • Humans
  • Genotype
  • Feeding and Eating Disorders of Childhood
  • Chromosomes, Human, Pair 12
  • Chromosome Deletion