TY - JOUR
T1 - De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
AU - Lo-A-Njoe, Shirley
AU - van der Veken, Lars T
AU - Vermont, Clementien
AU - Rafael-Croes, Louise
AU - Keizer, Vincent
AU - Hochstenbach, Ron
AU - Knoers, Nine
AU - van Haelst, Mieke M
PY - 2016/1/6
Y1 - 2016/1/6
N2 - Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a second case: a girl with a postnatal diagnosis of a de novo pure mosaic trisomy 1q1023.3 who has no urogenital or cardiac anomalies.
AB - Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a second case: a girl with a postnatal diagnosis of a de novo pure mosaic trisomy 1q1023.3 who has no urogenital or cardiac anomalies.
U2 - 10.1155/2016/2861653
DO - 10.1155/2016/2861653
M3 - Article
C2 - 26942023
SN - 2090-6544
VL - 2016
SP - 1
EP - 5
JO - Case reports in genetics
JF - Case reports in genetics
M1 - 2861653
ER -