Interstitial deletion 2q14q21

Authors

  • Moshe Frydman MD,

    Corresponding author
    1. Department of Pediatrics, Hasharon Hospital, Golda Medical Center, Petah Tiqwa, Israel
    2. The Sackler School of Medicine, Tel Aviv Universtiy, Tel Aviv, Israel
    • Genetics Clinic, Department of Pediatrics, Hasharon Hospital, Petah Tiqwa 49372, Israel
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  • Julia Steinberger,

    1. Department of Pediatrics, Hasharon Hospital, Golda Medical Center, Petah Tiqwa, Israel
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  • Fiorella Shabtai,

    1. Cytogenetics Laboratory, Hasharon Hospital, Golda Medical Center, Petah Tiqwa, Israel
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  • Mariassa Bat-Miriam Katznelson,

    1. Institute of Genetics, Sheba Medical Centre, Ramat Gan, Israel
    2. The Sackler School of Medicine, Tel Aviv Universtiy, Tel Aviv, Israel
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  • Itzhak Varsano

    1. Department of Pediatrics, Hasharon Hospital, Golda Medical Center, Petah Tiqwa, Israel
    2. The Sackler School of Medicine, Tel Aviv Universtiy, Tel Aviv, Israel
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Abstract

A girl with multiple congenital anomalies and a tendency to severe pyogenic infections was found to have an interstitial deletion of chromosome band 2q14-q21. Unusual facial manifestations included enophthalmos, long philtrum, micrognathia, narrow forehead, prominent glabella, and depressed nasal bridge. Unilateral corneal clouding, with Peters-like anomaly; agenesis of the corpus callosum; brain atrophy; and heart, kidney, hand, and dermatoglyphic anomalies were additional findings. Eye anomalies were observed in five of 22 patients with deletions of chromosome 2q. In comparing these cases, it seems that deletions of bands 2q21 and 2q31 are variably associated with microphthalmia, corneal clouding, cataracts, and Peters anomaly. Measurement of protein C and interleukin-1 (IL-1) did not show a gene dose effect, but the pyogenic infections and low IgA found in this patient may reflect an abnormality of IL-1 not detectable by our methods.

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