Abstract
We report on a twenty-two months old male patient with hypotonia, mental and motor retardation and trigonocephaly. Standard GTG banding chromosomal analysis (from metaphyses of a periferal blood lymphocyte culture) showed 46,XY, der(9) monosomy 9pter-->p22, trisomy 10q26--> qter karyotype. This unbalanced translocation resulted from the father's t(9,10) (p22;p26) karyotype. Deletions of the terminal part of 9p and partial trisomy of chromosome 10q are rare chromosomal disorders. To our knowledge, this is the first case report in the literature of a deletion of 9pter-->p22.3 and a duplication of 10q26-->qter. We assume that the clinical anomalies are due to der(9) monosomy 9pter-->p22, trisomy 10q-->26qter.
MeSH terms
-
Abnormalities, Multiple / diagnosis
-
Abnormalities, Multiple / genetics
-
Alleles
-
Chromosome Banding*
-
Chromosome Breakage
-
Chromosome Deletion
-
Chromosomes, Human, Pair 10 / genetics*
-
Chromosomes, Human, Pair 22 / genetics
-
Chromosomes, Human, Pair 9 / genetics*
-
Craniosynostoses / diagnosis
-
Craniosynostoses / genetics
-
Developmental Disabilities / diagnosis
-
Developmental Disabilities / genetics*
-
Humans
-
Infant
-
Intellectual Disability / diagnosis
-
Intellectual Disability / genetics*
-
Karyotyping
-
Male
-
Muscle Hypotonia / diagnosis
-
Muscle Hypotonia / genetics*
-
Translocation, Genetic / genetics*
-
Trisomy / genetics*
Supplementary concepts
-
Chromosome 10, monosomy 10q
-
Chromosome 22, trisomy
-
Chromosome 9p Deletion Syndrome