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

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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.

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Acknowledgements

We thank the patients and their parents for participation, Dr. Lorraine Potocki for critical review of the manuscript and providing additional clinical information on patients with dup(17)(p11.2p11.2) syndrome, and Dr. Wei Yu for technical assistance. This work was supported in part by the National Institute for Neurological Disorders and Strokes (RO1 NS27042 to J.R.L.), the National Institute for Child Health and Human Development (PO1 HD39420 to J.R.L.), and FIS-ISCIII CO3/07 and GO3/184 to L.P.J. and X.E..

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Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX 77030, USA

    Christine J. Shaw, Pawel Stankiewicz, Gabriel Bien-Willner, Chad A. Shaw & James R. Lupski

  2. Developmental Pediatrics, PLLC, Latham, New York, USA

    Scott C. Bello

  3. Centro de Patologia Celular, Instituto Universitario Dexeus, Barcelona, Spain

    Marta Carrera

  4. Universitat Pompeu Fabra, Barcelona, Spain

    Luis Perez Jurado

  5. Genes and Disease Program, Center for Genomic Regulation, Universitat Pompeu Fabra, Barcelona, Spain

    Xavier Estivill

  6. Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA

    James R. Lupski

  7. Texas Children’s Hospital, Houston, Texas, USA

    James R. Lupski

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  1. Christine J. Shaw
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  2. Pawel Stankiewicz
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  9. James R. Lupski
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Correspondence to James R. Lupski.

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Shaw, C.J., Stankiewicz, P., Bien-Willner, G. et al. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum Genet 115, 1–7 (2004). https://doi.org/10.1007/s00439-004-1119-5

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  • DOI: https://doi.org/10.1007/s00439-004-1119-5

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