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Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome.
Schwyzer, U; Binkert, F; Caflisch, U; Baumgartner, B; Schinzel, A.
Affiliation
  • Schwyzer U; Institute of Medical Genetics, University of Zurich, Switzerland.
Helv Paediatr Acta ; 42(4): 309-15, 1987.
Article in En | MEDLINE | ID: mdl-3443553
The 3p- syndrome (terminal deletion of the short arm of chromosome 3 with breakpoint at 3p25) was found in the G-banded karyotypes from an undergrown and developmentally retarded 13-month-old girl with a distinct pattern of congenital abnormalities. Features present in the patient and characteristic of the 3p- syndrome included low birthweight, brachy-trigonocephaly, a high and narrow forehead with a prominent metopic suture, epicanthic folds, upslanting palpebral fissures, ptosis, depressed nasal bridge, anteverted nares and a small mandible. She lacked postaxial polydactyly of fingers and toes which is present in about half of the so far reported about one dozen 3p- cases, but she showed an anteriorly placed anus. The deletion was overlooked at a first routine cytogenetic examination. At a later clinical evaluation of the patient, the suspicion of the 3p- syndrome was raised and the aberration found at revision of the old karyotypes. The importance of a good information flow between clinicians and cytogeneticists is stressed.
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 3 / Chromosome Aberrations / Chromosome Deletion Limits: Female / Humans / Infant Language: En Journal: Helv Paediatr Acta Year: 1987 Document type: Article Affiliation country: Switzerland Country of publication: Switzerland
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Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 3 / Chromosome Aberrations / Chromosome Deletion Limits: Female / Humans / Infant Language: En Journal: Helv Paediatr Acta Year: 1987 Document type: Article Affiliation country: Switzerland Country of publication: Switzerland