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Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects.


We describe here a newborn with a de novo 22.6Mb interstitial deletion of chromosome 5q22.3. The clinical findings included brachycephaly, a high forehead, hypertelorism with prominent eyes, low-set ears, clenched hands, club feet, a prominent coccyx with hair, ambiguous genitalia, inguinal hernia, heart defect and severe failure to thrive. This case had a more severe phenotype, compared with the previous reports of interstitial 5q syndrome. High resolution multicolor banding and array comparative genomic hybridization (array CGH) analysis delineated the breakpoints at 5q22.3 and 5q31.2. There were no obvious candidate genes for the specific correlation with the phenotypes except a PITX1 gene associated with the phenotype of club feet. Further cumulative data based on the molecular approach are needed to establish the genotype-phenotype correlation and to understand the role and influence of the genes in the interstitial 5q syndrome.


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    Department of Laboratory Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

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    Gene 494:1 2012 Feb 15 pg 105-8


    Abnormalities, Multiple
    Chromosomes, Human, Pair 5
    Craniofacial Abnormalities
    Genetic Association Studies
    Infant, Newborn
    Limb Deformities, Congenital
    Sequence Deletion

    Pub Type(s)

    Case Reports
    Journal Article



    PubMed ID