TY - JOUR
T1 - Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration
AU - Plaja, Alberto
AU - Lloveras, Elisabet
AU - Martinez-Bouzas, Cristina
AU - Barreña, Beatriz
AU - Campo, Miguel Del
AU - Fernández, Asunción
AU - Herrero, Marta
AU - Barranco, Laura
AU - Palau, Nuria
AU - López-Aríztegui, M. Asunción
AU - Català, Vicenç
AU - Tejada, Maria Isabel
PY - 2013/9/1
Y1 - 2013/9/1
N2 - We present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality. © 2013 Wiley Periodicals, Inc.
AB - We present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality. © 2013 Wiley Periodicals, Inc.
KW - 18p trisomy
KW - Cytogenetics
KW - Intellectual disability
KW - Recurring chromosome abnormality
KW - Small marker chromosome
KW - SSMC
U2 - 10.1002/ajmg.a.36102
DO - 10.1002/ajmg.a.36102
M3 - Article
SN - 1552-4825
VL - 161
SP - 2363
EP - 2368
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -