Ocular findings in partial trisomy 10q syndrome

K. Neely, M. B. Mets, P. Wong, K. Szego

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

We examined three siblings with partial trisomy 10q born to a mother carrying a balanced translocation between chromosomes 4 and 10. Our patients had many of the phenotypic abnormalities characteristic of this syndrome, and their chromosomal abnormality was confirmed by karyotypes of peripheral blood lymphocytes. Two ophthalmoscopic abnormalities not previously reported in this syndrome were noted in our patients. One child had bilateral enlarged, gray optic disks with elevated, blurred margins and distended retinal vessels. Another child had bilateral punctate yellow deposits scattered around the macula and optic disk.

Original languageEnglish (US)
Pages (from-to)82-87
Number of pages6
JournalAmerican Journal of Ophthalmology
Volume106
Issue number1
DOIs
StatePublished - Jan 1 1988

Fingerprint

Optic Disk
Retinal Vessels
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 4
Karyotype
Chromosome Aberrations
Siblings
Mothers
Lymphocytes
Chromosome 10q duplication syndrome

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

Neely, K. ; Mets, M. B. ; Wong, P. ; Szego, K. / Ocular findings in partial trisomy 10q syndrome. In: American Journal of Ophthalmology. 1988 ; Vol. 106, No. 1. pp. 82-87.
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Ocular findings in partial trisomy 10q syndrome. / Neely, K.; Mets, M. B.; Wong, P.; Szego, K.

In: American Journal of Ophthalmology, Vol. 106, No. 1, 01.01.1988, p. 82-87.

Research output: Contribution to journalArticle

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