Siblings with deletion 22q13.3 and trisomy 15q26 inherited from a maternally balanced translocation.
We describe two siblings with generalized hypotonia, expressive language delay, developmental delay, mild facial dysmorphism, and accelerated growth. In addition, the male sibling had testis dysgenesis. Cytogenetic evaluation revealed an unbalanced maternally inherited translocation t(15;22)(q26;q13.3) resulting in partial monosomy 22q and trisomy 15q. The combination of deletion 22q and duplication 15q has not been described previously.
Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Pen-Hua
PH
Su
Jia-Yuh
JY
Chen
Suh-Jen
SJ
Chen
D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009035:Mothers; D014178:Translocation, Genetic; D014314:Trisomy