Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis

R. E. Magenis, R. R. Sheehy, M. G. Brown, H. E. McDermid, B. N. White, Jonathan (Jon) Zonana, Richard Weleber

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Abstract

Two individuals, a boy and girl, with a clinical diagnosis of cat eye syndrome had an extra bisatellited chromosome. In the girl, the diagnosis was made on the basis of coloboma of the right iris, right preauricular pit, and imperforate anus; in the boy bilateral colobomata of the iris, down-slanting palpebral fissures, right preauricular skin tag, and right preauricular pit. Multiple staining techniques were used to characterize the extra chromosomes. With G-banding the extra chromosome usually appeared monocentric with two major G-positive bands, but with satellites on both ends; with C-banding, two C-band positive regions were evident, indicating that the chromosomes were likely dicentric. Silver staining demonstrated the presence of NORs near each end; Q-banding showed satellites on each end, differing in brightness and size. The chromosomes of the parents were normal; comparisons of Q-band heteromorphisms of the acrocentric chromosomes of the parents with those of the extra chromosome showed in each case one short arm/satellite region of the extra chromosome identical in appearance to one chromosome 22 of the mother and the other end of the extra bisatellited chromosome identical to the short arm/satellite of the mother's second chromosome 22. This extra chromosome, then, is the result of a maternal meiotic error in each case. In situ hybridization studies using the chromosome 22-derived probe p22/34, which identifies locus D22S9, showed 16% of the cells from the female patient to have silver grains on the proximal long arm of the normal chromosome 22 and 14% of the extra chromosome, while 10% of cells from the male had grains on the normal chromosomes 22 and an equal number on the extra chromosome, confirming the chromosome 22 origin of the extra chromosome in these patients.

Original languageEnglish (US)
Pages (from-to)9-19
Number of pages11
JournalAmerican Journal of Medical Genetics
Volume29
Issue number1
StatePublished - 1988

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In Situ Hybridization
Chromosomes
Chromosomes, Human, Pair 22
Coloboma
Mothers
Iris
Arm
Schmid-Fraccaro syndrome
Parents
Chromosome Banding
Imperforate Anus
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 10
Silver Staining
Eyelids
Silver
Staining and Labeling
Skin

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Parental origin of the extra chromosome in the cat eye syndrome : Evidence from heteromorphism and in situ hybridization analysis. / Magenis, R. E.; Sheehy, R. R.; Brown, M. G.; McDermid, H. E.; White, B. N.; Zonana, Jonathan (Jon); Weleber, Richard.

In: American Journal of Medical Genetics, Vol. 29, No. 1, 1988, p. 9-19.

Research output: Contribution to journalArticle

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abstract = "Two individuals, a boy and girl, with a clinical diagnosis of cat eye syndrome had an extra bisatellited chromosome. In the girl, the diagnosis was made on the basis of coloboma of the right iris, right preauricular pit, and imperforate anus; in the boy bilateral colobomata of the iris, down-slanting palpebral fissures, right preauricular skin tag, and right preauricular pit. Multiple staining techniques were used to characterize the extra chromosomes. With G-banding the extra chromosome usually appeared monocentric with two major G-positive bands, but with satellites on both ends; with C-banding, two C-band positive regions were evident, indicating that the chromosomes were likely dicentric. Silver staining demonstrated the presence of NORs near each end; Q-banding showed satellites on each end, differing in brightness and size. The chromosomes of the parents were normal; comparisons of Q-band heteromorphisms of the acrocentric chromosomes of the parents with those of the extra chromosome showed in each case one short arm/satellite region of the extra chromosome identical in appearance to one chromosome 22 of the mother and the other end of the extra bisatellited chromosome identical to the short arm/satellite of the mother's second chromosome 22. This extra chromosome, then, is the result of a maternal meiotic error in each case. In situ hybridization studies using the chromosome 22-derived probe p22/34, which identifies locus D22S9, showed 16{\%} of the cells from the female patient to have silver grains on the proximal long arm of the normal chromosome 22 and 14{\%} of the extra chromosome, while 10{\%} of cells from the male had grains on the normal chromosomes 22 and an equal number on the extra chromosome, confirming the chromosome 22 origin of the extra chromosome in these patients.",
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