Small maker chromosomes in two patients with segmental aneusomy for proximal 17p

Christine J. Shaw, Pawel Stankiewicz, Gabriel Bien-Willner, Scott C. Bello, Chad A. Shaw, Marta Carrera, Luis Perez Jurado, Xavier P. Estivill, James R. Lupski

Research output: Contribution to journalArticle

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Abstract

We report a nine-year-old girl (patient 1934) and a five-year-old boy (patient 2170) with small, de novo supernumerary marker chromosomes (SMCs) derived from proximal 17p. The clinical features of patient 1934 include developmental delay, triangular face, prominent forehead, low set ears, dental abnormalities, a high arched palate, long, flexible fingers, and joint laxity. Patient 2170 is affected with developmental delay, oral-motor dyspraxia/verbal apraxia, thick upper and lower lips, bilateral fifth finger clinodactyly, joint laxity and mild hypotonia. G-banded chromosome analysis of patient 1934 revealed mosaicism for a SMC in 72% of peripheral lymphocytes analyzed, whereas analysis of patient 2170 identified a smaller SMC present in 100% of cells analyzed. Fluorescence in situ hybridization (FISH) studies demonstrated that both of the SMCs derived from 17p10-p11.2. Using FISH and array-CGH analysis, the proximal breakpoints mapped within the centromere and the distal breakpoints were both located within the Smith-Magenis syndrome (SMS) common deletion region. We compare the clinical characteristics of our patients with those previously reported to have either SMC including 17p or duplications of proximal 17p in an effort to further delineate the phenotype of trisomy 17p10-p11.2 and to elucidate genotype-phenotype correlations.

Original languageEnglish
Pages (from-to)1-7
Number of pages7
JournalHuman Genetics
Volume115
Issue number1
DOIs
Publication statusPublished - Jun 2004
Externally publishedYes

Fingerprint

Chromosomes
Genetic Markers
Finger Joint
Joint Instability
Apraxias
Fluorescence In Situ Hybridization
Smith-Magenis Syndrome
Tooth Abnormalities
Chromosomes, Human, 21-22 and Y
Muscle Hypotonia
Mosaicism
Forehead
Palate
Centromere
Trisomy
Genetic Association Studies
Lip
Ear
Lymphocytes
Phenotype

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Shaw, C. J., Stankiewicz, P., Bien-Willner, G., Bello, S. C., Shaw, C. A., Carrera, M., ... Lupski, J. R. (2004). Small maker chromosomes in two patients with segmental aneusomy for proximal 17p. Human Genetics, 115(1), 1-7. https://doi.org/10.1007/s00439-004-1119-5

Small maker chromosomes in two patients with segmental aneusomy for proximal 17p. / Shaw, Christine J.; Stankiewicz, Pawel; Bien-Willner, Gabriel; Bello, Scott C.; Shaw, Chad A.; Carrera, Marta; Perez Jurado, Luis; Estivill, Xavier P.; Lupski, James R.

In: Human Genetics, Vol. 115, No. 1, 06.2004, p. 1-7.

Research output: Contribution to journalArticle

Shaw, CJ, Stankiewicz, P, Bien-Willner, G, Bello, SC, Shaw, CA, Carrera, M, Perez Jurado, L, Estivill, XP & Lupski, JR 2004, 'Small maker chromosomes in two patients with segmental aneusomy for proximal 17p', Human Genetics, vol. 115, no. 1, pp. 1-7. https://doi.org/10.1007/s00439-004-1119-5
Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M et al. Small maker chromosomes in two patients with segmental aneusomy for proximal 17p. Human Genetics. 2004 Jun;115(1):1-7. https://doi.org/10.1007/s00439-004-1119-5
Shaw, Christine J. ; Stankiewicz, Pawel ; Bien-Willner, Gabriel ; Bello, Scott C. ; Shaw, Chad A. ; Carrera, Marta ; Perez Jurado, Luis ; Estivill, Xavier P. ; Lupski, James R. / Small maker chromosomes in two patients with segmental aneusomy for proximal 17p. In: Human Genetics. 2004 ; Vol. 115, No. 1. pp. 1-7.
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