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- Title
Linear and Whorled Nevoid Hypermelanosis in Trisomy 13.
- Authors
Yüksel, Şengül; Savaci, Serap; Biçak, Uğur; Yakinci, Cengiz; Mizrak, Bülent
- Abstract
Abstract: Linear and whorled nevoid hypermelanosis (LWNH) is a reticulate pigmentary disorder with a sporadic occurrence, generally representing a genetic mosaicism. In this case, we describe a two-month-old girl with trisomy 13, who presented with various systemic anomalies such as congenital ventricular septal defect, microcephaly, auricular deformities, flatness of nasal root, overlapping fingers, umbilical hernia, and LWNH. G-banding chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and the parents. The karyotype of the patient was 47, XX,+13[100], with no mosaicism. The karyotypes of the parents were normal. To our knowledge, we present the first patient with LWNH in whom full trisomy 13 was confirmed postnatally in cultured peripheral blood lymphocytes.
- Subjects
MELANOSIS; PIGMENTATION disorders; MOSAICISM; TRISOMY; MICROCEPHALY; LYMPHOCYTES
- Publication
Turkish Journal of Medical Sciences, 2009, Vol 39, Issue 2, p321
- ISSN
1300-0144
- Publication type
Article