Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism

American Journal of Medical Genetics. Part a
Walla Al-HertaniJudith E Allanson

Abstract

We report on a girl with trisomy 12 mosaicism diagnosed postnatally. She has been followed from 4 months of age for developmental delay, unilateral sensorineural hearing loss, intestinal malrotation, hemi-hyperplasia, pigmentary dysplasia, retinopathy, and a vascular ring. To our knowledge, there have been no reports of complete trisomy 12 in the literature. However there have been a few reports describing the phenotype of individuals with trisomy 12 mosaicism. This case report is a description of the eighth liveborn individual diagnosed postnatally with this condition.

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Citations

Apr 4, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Nov 22, 2014·Clinical Dysmorphology·Brooke M McLaughlinHoward M Saal
Mar 28, 2017·American Journal of Medical Genetics. Part a·Bo HongReha M Toydemir
Apr 2, 2019·Cytogenetic and Genome Research·Yanca GaspariniLeslie D Kulikowski
Apr 19, 2016·Clinical Anatomy : Official Journal of the American Association of Clinical Anatomists & the British Association of Clinical Anatomists·Wallisa RobertsMarios Loukas
Mar 25, 2021·American Journal of Medical Genetics. Part a·Xiaolin HuLoren Pena

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