The 11q- syndrome with mosaic partial deletion of 11q.
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.
Ishida
Y
Y
Department of Pediatrics, Ehime University School of Medicine, Japan.
Watanabe
N
N
Ishihara
Y
Y
Matsuda
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005546:Forehead / Q000002:abnormalities; D005901:Glaucoma / Q000151:congenital; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009030:Mosaicism; D009056:Mouth Abnormalities / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome