Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter→q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and “Cat eye” phenotypical features
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 28 (6) , 509-515
- https://doi.org/10.1111/j.1399-0004.1985.tb00418.x
Abstract
A patient with multiple congenital anomalies suggestive of the "Cat eye" syndrome was found to have an extra marker bisatellited chromosome 22 derived from a maternal Y/22 translocation, identified by multiple banding patterns in cultures treated with DA. The proband''s karotype is 47,XX,+psu idic(22)(Yqter .fwdarw. Yq12::22p13 .fwdarw. 22q11::22q11 .fwdarw. 22p13::Yq12 .fwdarw. Yqter), t(22;Y)(p13;q12)mat., being tetrasomic for 22pter .fwdarw. q11, and trisomic for Yqh. Similarity between his clinical features and reported "Cat eye" cases, confirms that this region is responsible for the phenotypical expression of the syndrome.Keywords
This publication has 17 references indexed in Scilit:
- Partial trisomy 22?an old case reexaminedHuman Genetics, 1985
- The genetic significance of accessory bisatellited marker chromosomesHuman Genetics, 1983
- The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotypeHuman Genetics, 1981
- A 13-year-old girl with karyotype 47,XX,+i(22)(qll)Journal of Medical Genetics, 1981
- Demonstration of Y/autosomal translocations using distamycin AHuman Genetics, 1979
- Effects of distamycin A on human leukocytes in vitroCytogenetic and Genome Research, 1979
- A case of a reciprocal translocation between the Y and No. 1 chromosomesJournal of Human Genetics, 1978
- Prenatal diagnosis of genetic disorders.Journal of Medical Genetics, 1976
- A (17;22) translocation, balanced, 46 chromosomesCytogenetic and Genome Research, 1975
- Three dicentric Y chromosomesAnnals of Human Genetics, 1970