Trisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation

Supernumerary marker chromosomes (SMCs) have a reported frequency in the prenatal and newborn population ranging from 0.04% to 0.08% and about 37% of diagnosed SMCs are associated with an abnormal phenotype. Around 7.5% of them are derived from chromosome 22. SMCs(22) that result in tri‐ or tetrasom...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2007-10, Vol.143A (20), p.2423-2429
Main Authors: Morales, Carme, Soler, Anna, Margarit, Ester, Madrigal, Irene, Sánchez, Aurora
Format: Article
Language:English
Subjects:
17p subtelomeric
Adult
Biological and medical sciences
Cat‐eye syndrome
Chromosome aberrations
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 22
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability - genetics
low‐copy repeats
Male
Medical genetics
Medical sciences
polymorphism
supernumerary marker chromosome
Telomere - genetics
Trisomy
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Summary:Supernumerary marker chromosomes (SMCs) have a reported frequency in the prenatal and newborn population ranging from 0.04% to 0.08% and about 37% of diagnosed SMCs are associated with an abnormal phenotype. Around 7.5% of them are derived from chromosome 22. SMCs(22) that result in tri‐ or tetrasomy of band 22q11.2 are associated with Cat‐eye syndrome (CES), a syndrome of variable penetrance and affectation. CES‐like phenotype has been also related to 22q11.2 interstitial duplications and der(22) syndrome. The 22q11.2 region, also involved in the velocardiofacial microdeletional syndrome, presents high susceptibility to chromosomal rearrangements due to the presence of low‐copy repeats sequences (LCR22). Another region in the genome rich in LCR is 17p and five recurrent disorders have been mapped on the region 17p11‐p13. Some chromosomal imbalances affecting the 17p13.3 subtelomeric region have been reported, related to cryptic unbalanced translocations and associated, in most cases, to mental retardation and dysmorphic features. We report on a healthy male carrier of a SMC that was identified as a +der(22)t(17;22)(p13.3;q11.2) consequence of an abnormal 3:1 segregation of the paternal t(17;22) and we have determined the approximate size of the trisomic regions, comparing the obtained results with other reported imbalances involving 22q11.2 and 17pter. © 2007 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31777