Monosomy 11Q: report of new phenotypic manifestations.
We present a case of new phenotypic findings not previously reported associated with a partial deletion of chromosome 11 with a break point at 23q - (46,XY,del(11)(q23). Partial deletion of chromosome 11q was first described by Jacobsen et al(4). Forty-eight patients have been reported during the last 30 years, with variable break points between 11q11 and 11qter. New phenotypic findings in our patient with the associated 11q deletion are imperforate anus, bilateral cataracts, and hypoplastic, multilobed lungs.
Puvabanditsin
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Department of Pediatrics, Jersey City Medical Center, New Jersey 07304, USA. surasak1@aol.com
Garrow
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Zia-Ullah
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Supavekin
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Lianthanasarn
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P
Denev
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KI
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002386:Cataract / Q000151:congenital; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008297:Male; D009006:Monosomy / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy