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  • Title: Prenatally detected trisomy 7 mosaicism in a dysmorphic child.
    Author: Kivirikko S, Salonen R, Salo A, von Koskull H.
    Journal: Prenat Diagn; 2002 Jul; 22(7):541-4. PubMed ID: 12124684.
    Abstract:
    Trisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3 years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short left palpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low-set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism.
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