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The 11q‐ Syndrome with Mosaic Partial Deletion of 11q
Author(s) -
Ishida Yasushi,
Watanabe Noriyoshi,
Ishihara Yoshinori,
Matsuda Hiroshi
Publication year - 1992
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1992.tb01015.x
Subject(s) - trigonocephaly , karyotype , medicine , abnormality , mosaic , phenotype , chromosome , craniosynostosis , genetics , anatomy , gene , biology , psychiatry , history , archaeology
A female child with mosaic partial deletion of 1 lq is reported. At 1 month of age she was presented with congenital glaucoma, trigonocephaly and multiple minor anomalies. She exhibited growth retardation and the typical phenotype of llq‐ syndrome. G‐banding analysis failed to show any abnormality, although subsequent high resolution banding revealed the abnormal karyotype mos 46,XX,del(11)(q23.3 q24.2)/46,XX,del(11)(q23.3 q25). This case is a second case of mosaic llq‐ syndrome and her karyotype suggests that the region of 11q23.3–11q24.2 is critical in 11q‐ syndrome. Congenital glaucoma has never been reported as a complication of llq‐ syndrome.