TY - JOUR
T1 - Trisomy 4 mosaicism: Delineation of the phenotype
AU - Bouman, Arjan
AU - van der Kevie-Kersemaekers, Anne-Marie
AU - Huijsdens-van Amsterdam, Karin
AU - Dahhan, Nordin
AU - Knegt, Lia
AU - Vansenne, Fleur
AU - Cobben, Jan Maarten
PY - 2016
Y1 - 2016
N2 - Trisomy 4 mosaicism in liveborns is very rare. We describe a 17-month-old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients. Based on the few descriptions available in the literature the common phenotype of trisomy 4 mosaicism seems to consist of IUGR, low birth weight/length/OFC, congenital heart defects, characteristic thumb anomalies (aplasia/hypoplasia), skin abnormalities (hypo-/hyperpigmentation), several dysmorphic features, and likely some degree of intellectual disability. When trisomy 4 mosaicism is suspected clinicians should be aware that a normal karyotype in lymphocytes does not exclude mosaicism for trisomy 4. This report contributes to a further delineation of the phenotype associated with trisomy 4 mosaicism
AB - Trisomy 4 mosaicism in liveborns is very rare. We describe a 17-month-old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients. Based on the few descriptions available in the literature the common phenotype of trisomy 4 mosaicism seems to consist of IUGR, low birth weight/length/OFC, congenital heart defects, characteristic thumb anomalies (aplasia/hypoplasia), skin abnormalities (hypo-/hyperpigmentation), several dysmorphic features, and likely some degree of intellectual disability. When trisomy 4 mosaicism is suspected clinicians should be aware that a normal karyotype in lymphocytes does not exclude mosaicism for trisomy 4. This report contributes to a further delineation of the phenotype associated with trisomy 4 mosaicism
U2 - https://doi.org/10.1002/ajmg.a.37522
DO - https://doi.org/10.1002/ajmg.a.37522
M3 - Article
C2 - 26789019
SN - 1552-4825
VL - 170AA
SP - 1040
EP - 1045
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 4
ER -