Minute supernumerary ring chromosome 22 associated with cat eye syndrome

Further delineation of the critical region

A. J. Mears, H. El-Shanti, J. C. Murray, H. E. McDermid, S. R. Patil

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome (inv dup 22pter-22q11.2) resulting in four copies of this region. We describe an individual showing the inheritance of a minute supernumerary double ring chromosome 22, which resulted in expression of all cardinal features of CES. The size of the ring was determined by DNA dosage analysis and FISH analysis for five loci mapping to 22q11.2. The probes to the loci D22S9, D22S43, and ATP6E were present in four copies, whereas D22S57 and D22S181 were present in two copies. This finding further delineates the distal boundary of the critical region of CES, with ATP6E being the most distal duplicated locus identified. The phenotypically normal father and grandfather of the patient each had a small supernumerary ring chromosome and demonstrated three copies for the loci D22S9, D22S43, and ATP6E. Although three copies of this region have been reported in other cases with CES features, it is possible that the presence of four copies leads to greater susceptibility.

Original languageEnglish
Pages (from-to)667-673
Number of pages7
JournalAmerican Journal of Human Genetics
Volume57
Issue number3
Publication statusPublished - 1995
Externally publishedYes

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Ring Chromosomes
Genetic Markers
Fathers
Chromosome 22 ring
Schmid-Fraccaro syndrome
DNA
Grandparents

ASJC Scopus subject areas

  • Genetics

Cite this

Mears, A. J., El-Shanti, H., Murray, J. C., McDermid, H. E., & Patil, S. R. (1995). Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region. American Journal of Human Genetics, 57(3), 667-673.

Minute supernumerary ring chromosome 22 associated with cat eye syndrome : Further delineation of the critical region. / Mears, A. J.; El-Shanti, H.; Murray, J. C.; McDermid, H. E.; Patil, S. R.

In: American Journal of Human Genetics, Vol. 57, No. 3, 1995, p. 667-673.

Research output: Contribution to journalArticle

Mears, AJ, El-Shanti, H, Murray, JC, McDermid, HE & Patil, SR 1995, 'Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region', American Journal of Human Genetics, vol. 57, no. 3, pp. 667-673.
Mears, A. J. ; El-Shanti, H. ; Murray, J. C. ; McDermid, H. E. ; Patil, S. R. / Minute supernumerary ring chromosome 22 associated with cat eye syndrome : Further delineation of the critical region. In: American Journal of Human Genetics. 1995 ; Vol. 57, No. 3. pp. 667-673.
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