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. 2016:2016:2861653.
doi: 10.1155/2016/2861653. Epub 2016 Jan 31.

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Shirley Lo-A-Njoe  1 , Lars T van der Veken  2 , Clementien Vermont  1 , Louise Rafael-Croes  1 , Vincent Keizer  1 , Ron Hochstenbach  2 , Nine Knoers  2 , Mieke M van Haelst  2
Affiliations

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Shirley Lo-A-Njoe et al. Case Rep Genet. 2016.

Abstract

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.

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Figures

Figure 1
Figure 1
Face: note microcephaly; metopic ridge; wide, depressed nasal bridge; long philtrum; full cheeks; and retrognathia.
Figure 2
Figure 2
SNP-array analysis showed a mosaic duplication of ~18.0 Mb in 1q21.1-1q23.3: arr[hg19] 1q21.1q23.3(144,854,574-162,843,606) × 2~3. The upper y-axis shows the Log2 R ratio and the lower y-axis indicates the B allele frequency.
Figure 3
Figure 3
Partial G-banded karyogram showing both normal chromosomes 1 and the supernumerary der(1)(:q10→q23.3:) (a) and a metaphase after FISH using a satellite III DNA-probe (Vysis) showing three signals on band 1q12 (b).
See this image and copyright information in PMC

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