Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.
The frequency of small supernumerary marker chromosomes has been estimated to approximately 0.45 per 1000 newborns. They are usually seen as single marker chromosomes in a mosaic state. Two cytogenetically identical markers have been observed only occasionally. We report on a boy, with congenital heart defect, neonatal hypotonia, hypogenitalism, delayed psychomotor development and mild dysmorphic facial features. The GTG karyotype performed on peripheral blood lymphocytes revealed a mosaic male karyotype with three cell lines. One cell line had a normal karyotype. In the other two either single or double chromosome 6 derived supernumerary markers were present, leading to partial trisomy or partial tetrasomy of chromosome 6, respectively.
Oldak
M
M
Department of Pediatric Diabetology, Neonatology and Birth Defects, Medical University of Warsaw, Dzialdowska 1, PL-01-184 Warsaw, Poland. Monika.Oldak@ib.amwaw.edu.pl
Waligora
J
J
Gieruszczak-Bialek
D
D
Skorka
A
A
Bocian
E
E
Brycz-Witkowska
J
J
Stankiewicz
P
P
Korniszewski
L
L
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000782:Aneuploidy; D002648:Child; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D005817:Genetic Counseling; D005837:Genitalia, Male / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype