Trisomy 4 mosaicism: Delineation of the phenotype

American Journal of Medical Genetics. Part a
Arjan BoumanJan Maarten Cobben

Abstract

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.

References

Nov 1, 1990·American Journal of Medical Genetics·J P MarionJ H Priest
Apr 15, 1993·American Journal of Medical Genetics·M I Van AllenE Winsor
Feb 24, 2001·American Journal of Medical Genetics·A L ZaslavJ E Fox
Feb 8, 2003·Prenatal Diagnosis·Dagmar WieczorekGabriele Gillessen-Kaesbach
Jan 6, 2005·American Journal of Medical Genetics. Part a·April N BradyPaul M Fernhoff
Mar 10, 2007·Circulation Research·Adriana OsioAli J Marian
Dec 17, 2014·Clinical and Experimental Dermatology·K Lal, V Di Lernia

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Citations

Jul 14, 2020·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·Paula Calvo HoyasAlfredo Perales Marín
May 22, 2019·Genes·Ivan Y IourovSergei I Kutsev
Aug 20, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Naz GülerayMehmet Alikaşifoğlu

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