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Silver‐like syndrome and a small deletion on chromosome 13
Author(s) -
Wahlström Jan,
Holmgren Gösta,
AlbertssonWikland Kerstin,
Törnhage CarlJohan
Publication year - 1993
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1993.tb12618.x
Subject(s) - clinodactyly , hypertelorism , medicine , karyotype , chromosome , genetics , x chromosome , anatomy , biology , gene
A female child is described with features of Silver's syndrome, including pre‐ and postnatal growth delay, triangular face, hypertelorism, clinodactyly and developmental delay. In all lymphocytes analyzed, a small deletion was found in chromosome 13. The karyotype was 46,XX,del(13)(q22–32).