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BISATELLITED MICROCHROMOSOMES AND MULTIPLE CONGENITAL MALFORMATIONS
Author(s) -
CHEMKE J.,
RAPPAPORT S.,
NISANI R.,
MOGILNER B. M.
Publication year - 1983
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1983.tb09751.x
Subject(s) - medicine , craniofacial , chromosome instability , karyotype , chromosome , congenital malformations , marker chromosome , chromosome analysis , genetics , biology , pregnancy , gene , psychiatry
. The significance of small additional metscentric chromosomes is still unclear. A patient is reported with multiple congenital malformations involving craniofacial structures, the cardiovascular system and gastrointestinal tract, in whom an extra small bisatellited chromosome was detected. The maternal karyotype revealed a marker number 9 chromosome. These cases present a true diagnostic dilemma in genetic counseling, since chromosomal instability may occur in the presence of parental minor structural chromosomal changes.