Three new cases with a supernumerary ring chromosome 1.
We report on three cases with a cytogenetically identical ring chromosome containing euchromatin from the long arm of chromosome 1 (r[1][::p11.1-->q21.1::]). Two cases were newborn males (Cases 1 and 2) and the third one was prenatally identified as female (Case 3). Mosaicism was present in all three cases in different degrees, i.e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature.
Rodríguez
Laura
L
Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain Institute of Human Genetics and Anthropology, Jena, Germany Hospital de Leganés, Madrid, Spain Institute of Human Genetics, Charité, Campus Virchow, Berlin, Germany Practice of Clinical Genetics, Düsseldorf, Germany Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Dpto de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid, Spain.
Starke
Heike
H
Guardia
Nieves Martínez
NM
Tönnies
Holger
H
Neitzel
Heidemarie
H
Kozlowski
Peter
P
Mazauric
M-L
ML
Heller
Anita
A
Grondona
Fermina López
FL
Mansilla
Elena
E
Santos Muñoz
M José
MJ
Liehr
Thomas
T
Martínez-Frías
Maria Luisa
ML
D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D012303:Ring Chromosomes