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Chromosome studies performed on lymphocyte culture of a baby with specific dysmorphism and congenital anomalies suggestive of trisomy 21 revealed a mosaicism: 46,XY,rea(21q21q) [25]/47,XY,rea(21q21q),+mar1[25]. The karyotype of the mother is normal, but the father's karyotype presents an supernumerary chromosome greater and different from the marker of his son: 47,XY,+mar2 (100%). The identification of the two marker chromosomes by standard cytogenetic techniques followed by molecular techniques is essential for the identification of the origin of these two chromosomes. The unusual presence of two different markers one in the father and one in the son, as well as the clinical features of the child, are presented. The possible role of the paternal marker, in the de novo chromosomal rearrangement in his child will be discussed.
M R Verschraegen-Spae, and
B Quack, and
S Rousseaux, and
H Pison, and
L Messiaen, and
A De Paepe, and
J Lespinasse
January 1995,
Urologia internationalis,
M R Verschraegen-Spae, and
B Quack, and
S Rousseaux, and
H Pison, and
L Messiaen, and
A De Paepe, and
J Lespinasse
August 2013,
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
M R Verschraegen-Spae, and
B Quack, and
S Rousseaux, and
H Pison, and
L Messiaen, and
A De Paepe, and
J Lespinasse
January 1993,
Hematological oncology,
M R Verschraegen-Spae, and
B Quack, and
S Rousseaux, and
H Pison, and
L Messiaen, and
A De Paepe, and
J Lespinasse
October 1994,
Analytical cellular pathology : the journal of the European Society for Analytical Cellular Pathology,
M R Verschraegen-Spae, and
B Quack, and
S Rousseaux, and
H Pison, and
L Messiaen, and
A De Paepe, and
J Lespinasse
January 2006,
Methods in molecular biology (Clifton, N.J.),
M R Verschraegen-Spae, and
B Quack, and
S Rousseaux, and
H Pison, and
L Messiaen, and
A De Paepe, and
J Lespinasse
July 1994,
Prenatal diagnosis,
M R Verschraegen-Spae, and
B Quack, and
S Rousseaux, and
H Pison, and
L Messiaen, and
A De Paepe, and
J Lespinasse
August 1993,
American journal of human genetics,
M R Verschraegen-Spae, and
B Quack, and
S Rousseaux, and
H Pison, and
L Messiaen, and
A De Paepe, and
J Lespinasse
February 1998,
BioTechniques,
M R Verschraegen-Spae, and
B Quack, and
S Rousseaux, and
H Pison, and
L Messiaen, and
A De Paepe, and
J Lespinasse
August 2000,
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
M R Verschraegen-Spae, and
B Quack, and
S Rousseaux, and
H Pison, and
L Messiaen, and
A De Paepe, and
J Lespinasse
July 1993,
Human genetics,
