Deletion of the Distal Long Arm of Chromosome 10; Is There a Characteristic Phenotype? A Report of 15 de Novo and Familial Cases

Melita Irving (Lead / Corresponding author), Helen Hanson, Peter Turnpenny, Carole Brewer, Caroline Mackie Ogilvie, Angela Davies, Jonathan Berg

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    57 Citations (Scopus)

    Abstract

    It has been suggested previously that patients with terminal deletions of chromosome 10q have a recognizable phenotype including a characteristic facial appearance combined with other abnormalities including mental retardation, cardiac and anogenital anomalies. We report the largest published series of new cases of terminal 10q deletion, including eight familial and four de novo cases and three cases with interstitial deletions involving chromosome bands 10q25.2-26.3. The deleted regions were defined by FISH using YAC probes, as well as standard karyotyping. The most consistent clinical features in our cases are cranial anomalies including facial asymmetry, prominent nose and nasal bridge, prominent ears, thin upper lip, along with growth retardation, developmental delay, and digital abnormalities. Visceral abnormalities were only identified in a small number of the patients, with renal involvement in three cases and structural cardiac malformations in two others. Learning difficulties of varying severity were found in 11 cases and behavioral problems described in four. Candidate genes for behavioral and learning difficulties within the deleted region include Calcyon. Other genes in the region that might have a role in causing the phenotype include the genes type 2 (FGFR2) and C-terminal binding protein 2 (CTBP2).

    Original languageEnglish
    Pages (from-to)153-163
    Number of pages11
    JournalAmerican Journal of Medical Genetics
    Volume123A
    Issue number2
    Early online date28 Oct 2003
    DOIs
    Publication statusPublished - 1 Dec 2003

    Keywords

    • Chromosomal deletion
    • Chromosome 10
    • Fluorescence in situ hybridization
    • Learning difficulties

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)

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