Ishida Y, Watanabe N, Ishihara Y, Matsuda H
Department of Pediatrics, Ehime University School of Medicine, Japan.
Acta Paediatr Jpn. 1992 Dec;34(6):592-6. doi: 10.1111/j.1442-200x.1992.tb01015.x.
A female child with mosaic partial deletion of 11q is reported. At 1 month of age she was presented with cogenital glaucoma, trigonocephaly and multiple minor anomalies. She exhibited growth retardation and the typical phenotype of 11q- syndrome. G-banding analysis failed to show any abnormality, although subsequent high resolution banding revealed the abnormal karyotype 46,XX,del(11)(q23.3 q24.2)/46,XX,del(11)(q23.3 q25). This case is a second case of mosaic 11q- 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 11q- syndrome.
报告了一名患有11q镶嵌型部分缺失的女童。1月龄时，她出现先天性青光眼、三角头畸形和多种轻微异常。她表现出生长发育迟缓以及典型的11q-综合征表型。G显带分析未显示任何异常，尽管随后的高分辨率显带揭示了异常核型46,XX,del(11)(q23.3 q24.2)/46,XX,del(11)(q23.3 q25)。该病例是镶嵌型11q-综合征的第二例，其核型表明11q23.3 - 11q24.2区域在11q-综合征中至关重要。先天性青光眼从未被报道为11q-综合征的并发症。
